#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
TMEM168	64418	broad.mit.edu	37	7	112424705	112424706	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:112424705_112424706insT	ENST00000312814.6	-	2	735_736	c.175_176insA	c.(175-177)acafs	p.T59fs	TMEM168_ENST00000454074.1_Frame_Shift_Ins_p.T59fs	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	59						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.T59fs*52(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGAATTTGCTGTTTTTTCCCAT	0.342																																					p.T59fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.176_177insA	7						.																																			112211942	SO:0001589	frameshift_variant	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.176dupA	7.37:g.112424711_112424711dupT	ENSP00000323068:p.Thr59fs		112211941	NM_022484	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Frame_Shift_Ins	INS	ENST00000312814.6	37	CCDS5757.1																																																																																				0.342	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484	
KLF14	136259	broad.mit.edu	37	7	130418544	130418545	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:130418544_130418545insC	ENST00000310992.4	-	1	343_344	c.316_317insG	c.(316-318)gaafs	p.E106fs		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E106fs*117(1)		large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GCGTGGAGCTTCCCCCGAGTTC	0.767																																					p.E106fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.317_318insG	7						.																																			130069085	SO:0001589	frameshift_variant	136259	exon1			AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.317dupG	7.37:g.130418549_130418549dupC	ENSP00000310878:p.Glu106fs		130069084	NM_138693	Q19A42|Q19A43	Frame_Shift_Ins	INS	ENST00000310992.4	37	CCDS5825.1																																																																																				0.767	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693	
KCNH2	3757	broad.mit.edu	37	7	150656678	150656679	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:150656678_150656679insG	ENST00000262186.5	-	3	854_855	c.453_454insC	c.(451-456)cccaccfs	p.T152fs	KCNH2_ENST00000430723.3_Frame_Shift_Ins_p.T152fs|KCNH2_ENST00000392968.2_Frame_Shift_Ins_p.T56fs	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	152					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.T152fs*180(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)	AGCCAGCTGGTGGGGGGGCCCC	0.589																																					p.T152fs	GBM(137;110 1844 13671 20123 45161)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.454_455insC	7	GRCh37	CD001499|CI002553|CI056214	KCNH2	D|I		.																																			150287612	SO:0001589	frameshift_variant	3757	exon3			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.454dupC	7.37:g.150656685_150656685dupG	ENSP00000262186:p.Thr152fs		150287611	NM_000238	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Frame_Shift_Ins	INS	ENST00000262186.5	37	CCDS5910.1																																																																																				0.589	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238	
ZNF395	55893	broad.mit.edu	37	8	28210808	28210809	+	Frame_Shift_Ins	INS	-	-	G	rs145352684	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:28210808_28210809insG	ENST00000344423.5	-	5	831_832	c.700_701insC	c.(700-702)cacfs	p.H234fs	ZNF395_ENST00000523095.1_Frame_Shift_Ins_p.H234fs|ZNF395_ENST00000523202.1_Frame_Shift_Ins_p.H234fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H234fs*43(1)|p.H234fs*19(1)|p.H234P(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGCCTGGGGGTGGGGGGGCGAG	0.609																																					p.H234fs												.	.	3	Substitution - Missense(1)|Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(3)	c.701_702insC	8						.																																			28266728	SO:0001589	frameshift_variant	55893	exon5			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.701dupC	8.37:g.28210815_28210815dupG	ENSP00000340494:p.His234fs		28266727	NM_018660	B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Frame_Shift_Ins	INS	ENST00000344423.5	37	CCDS6067.1																																																																																				0.609	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1		
BCL2L12	83596	broad.mit.edu	37	19	50170355	50170356	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:50170355_50170356insC	ENST00000246785.3	+	3	697_698	c.439_440insC	c.(439-441)gccfs	p.A147fs	IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000597198.1_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000598808.1_5'Flank|BCL2L12_ENST00000441864.2_Frame_Shift_Ins_p.A146fs|IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000377139.3_5'Flank|BCL2L12_ENST00000246784.3_Intron	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	147					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)		p.S149fs*2(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		GCGAGGAGCAGCCCCCTCTGAG	0.584																																					p.A147fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.439_440insC	19						.																																			54862168	SO:0001589	frameshift_variant	83596	exon3			AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.444dupC	19.37:g.50170360_50170360dupC	ENSP00000246785:p.Ala147fs		54862167	NM_138639	Q3SY11|Q3SY13|Q96I96|Q9HB08	Frame_Shift_Ins	INS	ENST00000246785.3	37	CCDS12776.1																																																																																				0.584	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842	
IL4I1	259307	broad.mit.edu	37	19	50394348	50394349	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:50394348_50394349insC	ENST00000391826.2	-	7	794_795	c.652_653insG	c.(652-654)gagfs	p.E218fs	IL4I1_ENST00000595948.1_Frame_Shift_Ins_p.E240fs|IL4I1_ENST00000341114.3_Frame_Shift_Ins_p.E240fs|MIR4750_ENST00000584564.1_RNA	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	218						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)	p.E240fs*153(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	CAGGTTCCCCTCCCCGAGAAGA	0.673																																					p.E218fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.653_654insG	19						.																																			55086161	SO:0001589	frameshift_variant	259307	exon7			AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.653dupG	19.37:g.50394352_50394352dupC	ENSP00000375702:p.Glu218fs		55086160	NM_152899	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Frame_Shift_Ins	INS	ENST00000391826.2	37	CCDS12787.1																																																																																				0.673	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1		
PRPF38B	55119	broad.mit.edu	37	1	109242455	109242456	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:109242455_109242456insA	ENST00000370025.4	+	6	1723_1724	c.1454_1455insA	c.(1453-1458)tcaaaafs	p.SK485fs	PRPF38B_ENST00000370021.1_Frame_Shift_Ins_p.SK374fs	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	485					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.R488fs*4(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GTTGAAAAATCAAAAAAACGGG	0.361																																					p.S485fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1454_1455insA	1						.			0,4266		0,0,2133						3.9	1.0			105	1,8253		0,1,4126	no	frameshift	PRPF38B	NM_018061.2		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				109043979	SO:0001589	frameshift_variant	55119	exon6			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1461dupA	1.37:g.109242462_109242462dupA	ENSP00000359042:p.Ser485fs		109043978	NM_018061	Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Frame_Shift_Ins	INS	ENST00000370025.4	37	CCDS788.1																																																																																				0.361	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061	
CHIT1	1118	broad.mit.edu	37	1	203186148	203186149	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:203186148_203186149insT	ENST00000367229.1	-	11	1303_1304	c.1269_1270insA	c.(1267-1272)aaagctfs	p.A424fs	CHIT1_ENST00000255427.3_Frame_Shift_Ins_p.A405fs|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Frame_Shift_Ins_p.A415fs	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	424	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.A424fs*2(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						AGCCCATCAGCTTTGCCCTGGC	0.604											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A424fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1270_1271insA	1						.																																			201452772	SO:0001589	frameshift_variant	1118	exon11			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1270dupA	1.37:g.203186151_203186151dupT	ENSP00000356198:p.Ala424fs	2135	201452771	NM_003465	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Frame_Shift_Ins	INS	ENST00000367229.1	37	CCDS1436.1																																																																																				0.604	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465	
GNPAT	8443	broad.mit.edu	37	1	231408093	231408094	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:231408093_231408094insT	ENST00000366647.4	+	11	1727_1728	c.1558_1559insT	c.(1558-1560)gttfs	p.V520fs	GNPAT_ENST00000366646.3_Frame_Shift_Ins_p.V459fs	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	520					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.A522fs*3(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CCTACGTGATGTTTTTGCAGAT	0.376																																					p.V520fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1558_1559insT	1						.																																			229474717	SO:0001589	frameshift_variant	8443	exon11			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1563dupT	1.37:g.231408098_231408098dupT	ENSP00000355607:p.Val520fs		229474716	NM_014236	B4DNM9|Q5TBH7|Q9BWC2	Frame_Shift_Ins	INS	ENST00000366647.4	37	CCDS1592.1																																																																																				0.376	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1		
ATAT1	79969	broad.mit.edu	37	6	30610756	30610757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:30610756_30610757insG	ENST00000376485.4	+	10	966_967	c.936_937insG	c.(937-939)gggfs	p.G313fs	ATAT1_ENST00000329992.8_Frame_Shift_Ins_p.G313fs|ATAT1_ENST00000319027.5_Frame_Shift_Ins_p.G290fs|ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000376483.4_Frame_Shift_Ins_p.G313fs|ATAT1_ENST00000318999.7_Frame_Shift_Ins_p.G290fs|ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.G301fs|ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.G290fs					alpha tubulin acetyltransferase 1									p.S315fs*>10(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CTGCTGACCCTGGGGGCAGCCC	0.604																																					p.P277fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.831_832insG	6						.																																			30718736	SO:0001589	frameshift_variant	79969	exon9			AK023220	CCDS4683.2, CCDS54978.1, CCDS59002.1	6p21.32	2014-06-17	2010-10-11	2010-10-11	ENSG00000137343	ENSG00000137343	2.3.1.108		21186	protein-coding gene	gene with protein product	"""alpha-tubulin N-acetyltransferase"""	615556	"""chromosome 6 open reading frame 134"""	C6orf134		20829795	Standard	NM_024909		Approved	FLJ13158, Em:AB023049.7, MEC17	uc003nqv.3	Q5SQI0	OTTHUMG00000031219	ENST00000376485.4:c.941dupG	6.37:g.30610761_30610761dupG	ENSP00000365668:p.Gly313fs		30718735	NM_001190724		Frame_Shift_Ins	INS	ENST00000376485.4	37																																																																																					0.604	ATAT1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076449.2	NM_024909	
INPPL1	3636	broad.mit.edu	37	11	71948208	71948209	+	Frame_Shift_Ins	INS	-	-	C	rs561416155		TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:71948208_71948209insC	ENST00000298229.2	+	26	3124_3125	c.2920_2921insC	c.(2920-2922)gccfs	p.A974fs	INPPL1_ENST00000538751.1_Frame_Shift_Ins_p.A732fs|INPPL1_ENST00000541756.1_Frame_Shift_Ins_p.A732fs|PHOX2A_ENST00000544057.1_5'Flank	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	974	Pro-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.P977fs*7(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGGGTGGCGGCCCCCCCACCC	0.634																																					p.A974fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2920_2921insC	11						.																																			71625857	SO:0001589	frameshift_variant	3636	exon26			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2927dupC	11.37:g.71948215_71948215dupC	ENSP00000298229:p.Ala974fs		71625856	NM_001567	B2RTX5|Q13577|Q13578	Frame_Shift_Ins	INS	ENST00000298229.2	37	CCDS8213.1																																																																																				0.634	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567	
C21orf91	54149	broad.mit.edu	37	21	19168965	19168966	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr21:19168965_19168966insT	ENST00000400558.3	-	3	687_688	c.597_598insA	c.(595-600)aaagaafs	p.E200fs	AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000284881.4_Frame_Shift_Ins_p.E200fs|C21orf91_ENST00000493464.1_5'Flank|C21orf91_ENST00000400559.3_Frame_Shift_Ins_p.E200fs	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91									p.E200fs*6(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		ATTGTCTCTTCTTTTTTCTGTG	0.411																																					p.E200fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.598_599insA	21						.																																			18090837	SO:0001589	frameshift_variant	54149	exon3			AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.598dupA	21.37:g.19168971_19168971dupT	ENSP00000383403:p.Glu200fs		18090836	NM_017447		Frame_Shift_Ins	INS	ENST00000400558.3	37	CCDS42909.1																																																																																				0.411	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447	
CNDP2	55748	broad.mit.edu	37	18	72180811	72180812	+	Frame_Shift_Ins	INS	-	-	G	rs144608297		TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr18:72180811_72180812insG	ENST00000324262.4	+	8	1076_1077	c.760_761insG	c.(760-762)aggfs	p.R254fs	CNDP2_ENST00000579847.1_Frame_Shift_Ins_p.R254fs|CNDP2_ENST00000324301.8_Frame_Shift_Ins_p.R170fs	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	254					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.N256fs*8(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGTGGACAAGAGGGGGAACATC	0.599																																					p.R254fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.760_761insG	18						.																																			70331792	SO:0001589	frameshift_variant	55748	exon8			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.765dupG	18.37:g.72180816_72180816dupG	ENSP00000325548:p.Arg254fs		70331791	NM_018235	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Frame_Shift_Ins	INS	ENST00000324262.4	37	CCDS12006.1																																																																																				0.599	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235	
SENP5	205564	broad.mit.edu	37	3	196612055	196612056	+	Start_Codon_Ins	INS	-	-	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:196612055_196612056insA	ENST00000323460.5	+	0	252_253				SENP5_ENST00000445299.2_Start_Codon_Ins|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5						cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.Q4fs*16(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TCAGAAAAATGAAAAAACAGAG	0.332																																					p.M1fs	Ovarian(47;891 1095 11174 13858 51271)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.3_4insA	3						.																																			198096453	SO:0001582	initiator_codon_variant	205564	exon2			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.9dupA	3.37:g.196612061_196612061dupA			198096452	NM_152699	B4DY82|Q96SA5	Frame_Shift_Ins	INS	ENST00000323460.5	37	CCDS3322.1																																																																																				0.332	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699	
PTPN23	25930	broad.mit.edu	37	3	47452321	47452322	+	Frame_Shift_Ins	INS	-	-	C	rs374554596		TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:47452321_47452322insC	ENST00000265562.4	+	20	3110_3111	c.3033_3034insC	c.(3034-3036)cccfs	p.P1012fs	PTPN23_ENST00000431726.1_Frame_Shift_Ins_p.P886fs	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1012	His.|Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.L1014fs*68(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAGCCGCCACCCCCCCTACA	0.688																																					p.P1011fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.3033_3034insC	3						.																																			47427326	SO:0001589	frameshift_variant	25930	exon20			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3040dupC	3.37:g.47452328_47452328dupC	ENSP00000265562:p.Pro1012fs		47427325	NM_015466	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Frame_Shift_Ins	INS	ENST00000265562.4	37	CCDS2754.1																																																																																				0.688	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466	
CPXCR1	53336	broad.mit.edu	37	X	88008695	88008696	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:88008695_88008696insC	ENST00000276127.4	+	3	539_540	c.280_281insC	c.(280-282)accfs	p.T94fs	CPXCR1_ENST00000373111.1_Frame_Shift_Ins_p.T94fs	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	94							metal ion binding (GO:0046872)	p.I96fs*13(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCTACTTCAGACCCCCATTCCC	0.411																																					p.T94fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.280_281insC	X						.																																			87895352	SO:0001589	frameshift_variant	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.285dupC	X.37:g.88008700_88008700dupC	ENSP00000276127:p.Thr94fs		87895351	NM_033048	B2R9F9|D3DTE7|Q96RS3	Frame_Shift_Ins	INS	ENST00000276127.4	37	CCDS14458.1																																																																																				0.411	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048	
SYK	6850	broad.mit.edu	37	9	93607788	93607789	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:93607788_93607789insA	ENST00000375754.4	+	3	638_639	c.490_491insA	c.(490-492)gaafs	p.E164fs	SYK_ENST00000375751.4_Frame_Shift_Ins_p.E164fs|SYK_ENST00000375746.1_Frame_Shift_Ins_p.E164fs|SYK_ENST00000375747.1_Frame_Shift_Ins_p.E164fs	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	164	Interdomain A.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.M166fs*14(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CACAGCCCATGAAAAAATGCCT	0.485			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																p.E164fs			Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.490_491insA	9						.																																			92647610	SO:0001589	frameshift_variant	6850	exon3			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.496dupA	9.37:g.93607794_93607794dupA	ENSP00000364907:p.Glu164fs		92647609	NM_001174167		Frame_Shift_Ins	INS	ENST00000375754.4	37	CCDS6688.1																																																																																				0.485	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1		
NET1	10276	broad.mit.edu	37	10	5498667	5498668	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:5498667_5498668insC	ENST00000355029.4	+	12	1643_1644	c.1501_1502insC	c.(1501-1503)gccfs	p.A501fs	NET1_ENST00000542715.1_Frame_Shift_Ins_p.A320fs|NET1_ENST00000380359.3_Frame_Shift_Ins_p.A447fs	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	501	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F503fs*9(1)|p.F449fs*9(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGCGGCCATTGCCCCCTTCCAG	0.599																																					p.A447fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.1339_1340insC	10						.																																			5488668	SO:0001589	frameshift_variant	10276	exon10			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1506dupC	10.37:g.5498672_5498672dupC	ENSP00000347134:p.Ala501fs		5488667	NM_005863	Q12773|Q96D82|Q99903|Q9UEN6	Frame_Shift_Ins	INS	ENST00000355029.4	37	CCDS41483.1																																																																																				0.599	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863	
APAF1	317	broad.mit.edu	37	12	99064865	99064866	+	Splice_Site	INS	-	-	TA			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:99064865_99064866insTA	ENST00000551964.1	+	11	2344		c.e11+1		APAF1_ENST00000549007.1_Splice_Site|APAF1_ENST00000547045.1_Splice_Site|APAF1_ENST00000550527.1_Splice_Site|APAF1_ENST00000359972.2_Splice_Site|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Splice_Site|APAF1_ENST00000357310.1_Splice_Site|APAF1_ENST00000552268.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AGATGAAAAGGTATATATATTA	0.312																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.																																			97588997	SO:0001630	splice_region_variant	317	.			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1608+1->TA	12.37:g.99064872_99064873dupTA			97588996	.	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Splice_Site	INS	ENST00000551964.1	37	CCDS9069.1																																																																																				0.312	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	Intron
ZAN	7455	broad.mit.edu	37	7	100361686	100361686	+	RNA	SNP	C	C	T	rs377380617		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:100361686C>T	ENST00000348028.3	+	0	4299				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F1378F(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTTCCTTCTTCGACAGCTGCA	0.612																																					p.F1378F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4134T	7						.	C	,	1,4307		0,1,2153	64.0	63.0	63.0		4134,4134	-4.9	0.0	7		63	0,8508		0,0,4254	no	coding-synonymous,coding-synonymous	ZAN	NM_003386.1,NM_173059.1	,	0,1,6407	TT,TC,CC		0.0,0.0232,0.0078	,	1378/2813,1378/2722	100361686	1,12815	2154	4254	6408	100199622			7455	exon22			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100361686C>T			100199622	NM_173059	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37																																																																																					0.612	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
EPHB4	2050	broad.mit.edu	37	7	100405106	100405106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:100405106G>A	ENST00000358173.3	-	13	2683	c.2215C>T	c.(2215-2217)Cga>Tga	p.R739*	EPHB4_ENST00000360620.3_Nonsense_Mutation_p.R739*	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	739	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R739*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCAGGTCTCGGTGGACGTAG	0.582																																					p.R739X	GBM(200;2113 3072 25865 52728)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2215T	7						.						174.0	132.0	146.0					7																	100405106		2203	4300	6503	100243042	SO:0001587	stop_gained	2050	exon13			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2215C>T	7.37:g.100405106G>A	ENSP00000350896:p.Arg739*		100243042	NM_004444	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Nonsense_Mutation	SNP	ENST00000358173.3	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	44	10.739601	0.99460	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	.	.	.	4.65	4.65	0.58169	.	0.000000	0.40302	N	0.001137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0272	0.71680	0.0:0.0:1.0:0.0	.	.	.	.	X	739	.	ENSP00000350896:R739X	R	-	1	2	EPHB4	100243042	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.503000	0.73699	2.124000	0.65301	0.313000	0.20887	CGA		0.582	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444	
TRIM56	81844	broad.mit.edu	37	7	100731313	100731313	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:100731313G>A	ENST00000306085.6	+	3	1017	c.720G>A	c.(718-720)gcG>gcA	p.A240A		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	240					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A240A(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AGAAGGAGGCGCTAGCCCGGC	0.726																																					p.A240A	Ovarian(89;1092 1379 22756 38989 39611)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G720A	7						.						7.0	10.0	9.0					7																	100731313		2093	4193	6286	100518033	SO:0001819	synonymous_variant	81844	exon3			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.720G>A	7.37:g.100731313G>A			100518033	NM_030961	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	CCDS43625.1																																																																																				0.726	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961	
FIS1	51024	broad.mit.edu	37	7	100883435	100883435	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:100883435C>A	ENST00000223136.4	-	4	429	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S	FIS1_ENST00000442303.1_3'UTR|CLDN15_ENST00000401528.1_5'Flank|CLDN15_ENST00000433422.1_5'Flank|CLDN15_ENST00000308344.5_5'Flank|FIS1_ENST00000474120.1_3'UTR|FIS1_ENST00000482199.1_5'UTR	NM_016068.2	NP_057152.2	Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	117					calcium-mediated signaling using intracellular calcium source (GO:0035584)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|mitochondrion morphogenesis (GO:0070584)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|peroxisome fission (GO:0016559)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|release of cytochrome c from mitochondria (GO:0001836)	integral component of mitochondrial outer membrane (GO:0031307)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|protein complex (GO:0043234)	receptor binding (GO:0005102)	p.A117S(1)		kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TTCTTCATGGCCTTGTCAATG	0.587																																					p.A117S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G349T	7						.						139.0	142.0	141.0					7																	100883435		2052	4187	6239	100670155	SO:0001583	missense	51024	exon4			AF151893	CCDS43626.1	7q22.1	2012-10-01	2006-04-04	2006-01-24	ENSG00000214253	ENSG00000214253			21689	protein-coding gene	gene with protein product	"""CGI-135 protein"""	609003	"""tetratricopeptide repeat domain 11"", ""fission 1 (mitochondrial outer membrane) homolog (yeast)"""	TTC11		14996942, 16010987	Standard	NM_016068		Approved	CGI-135, H_NH0132A01.6, Fis1	uc003uyj.4	Q9Y3D6	OTTHUMG00000157106	ENST00000223136.4:c.349G>T	7.37:g.100883435C>A	ENSP00000223136:p.Ala117Ser		100670155	NM_016068	Q9BTP3	Missense_Mutation	SNP	ENST00000223136.4	37	CCDS43626.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.649166	0.67358	.	.	ENSG00000214253	ENST00000223136	.	.	.	5.1	4.19	0.49359	Tetratricopeptide-like helical (1);	0.000000	0.64402	U	0.000019	T	0.76343	0.3974	M	0.77103	2.36	0.51233	D	0.999917	B	0.27416	0.178	P	0.45829	0.494	T	0.73889	-0.3840	9	0.35671	T	0.21	.	13.1066	0.59252	0.0:0.8374:0.1626:0.0	.	117	Q9Y3D6	FIS1_HUMAN	S	117	.	ENSP00000223136:A117S	A	-	1	0	FIS1	100670155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.572000	0.74005	1.111000	0.41721	0.561000	0.74099	GCC		0.587	FIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347449.1	NM_016068	
CDHR3	222256	broad.mit.edu	37	7	105641916	105641916	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:105641916G>A	ENST00000317716.9	+	7	802	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	CDHR3_ENST00000542731.1_Missense_Mutation_p.R241Q|CDHR3_ENST00000478080.1_Missense_Mutation_p.R153Q|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000541203.1_Missense_Mutation_p.E142K|CDHR3_ENST00000470188.1_Intron	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	241	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.R241Q(1)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGCCCGACACGAGTGTACACA	0.507																																					p.R241Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G722A	7						.						117.0	115.0	116.0					7																	105641916		1991	4157	6148	105429152	SO:0001583	missense	222256	exon7			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.722G>A	7.37:g.105641916G>A	ENSP00000325954:p.Arg241Gln		105429152	NM_152750	Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	CCDS47684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.65|13.65	2.300659|2.300659	0.40694|0.40694	.|.	.|.	ENSG00000128536|ENSG00000128536	ENST00000541203|ENST00000542731;ENST00000317716;ENST00000478080	T|T;T;T	0.29917|0.37752	1.55|1.18;1.18;1.18	5.38|5.38	2.15|2.15	0.27550|0.27550	.|Cadherin (2);Cadherin-like (1);	.|0.673417	.|0.13301	.|N	.|0.398224	T|T	0.44912|0.44912	0.1316|0.1316	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	0.999998|0.999998	.|D;D	.|0.69078	.|0.988;0.997	.|P;P	.|0.57468	.|0.632;0.821	T|T	0.21724|0.21724	-1.0237|-1.0237	7|10	0.87932|0.72032	D|D	0|0.01	-0.795|-0.795	5.541|5.541	0.17038|0.17038	0.1925:0.2627:0.5448:0.0|0.1925:0.2627:0.5448:0.0	.|.	.|228;241	.|B3KYA0;Q6ZTQ4	.|.;CDHR3_HUMAN	K|Q	142|241;241;153	ENSP00000443733:E142K|ENSP00000439766:R241Q;ENSP00000325954:R241Q;ENSP00000417771:R153Q	ENSP00000419593:E54K|ENSP00000325954:R241Q	E|R	+|+	1|2	0|0	CDHR3|CDHR3	105429152|105429152	0.004000|0.004000	0.15560|0.15560	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	0.562000|0.562000	0.23531|0.23531	1.141000|1.141000	0.42275|0.42275	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.507	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750	
GPR146	115330	broad.mit.edu	37	7	1097946	1097946	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:1097946C>T	ENST00000397095.1	+	2	1018	c.795C>T	c.(793-795)ccC>ccT	p.P265P	GPR146_ENST00000297468.3_Silent_p.P265P|RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P265P(1)		autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GAGGGAAGCCCGTGGACGCAC	0.582																																					p.P265P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C795T	7						.						98.0	84.0	89.0					7																	1097946		2203	4300	6503	1064472	SO:0001819	synonymous_variant	115330	exon1			BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"""GPCR / Class A : Orphans"""	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.795C>T	7.37:g.1097946C>T			1064472	NM_138445	Q86SP5	Silent	SNP	ENST00000397095.1	37	CCDS5321.1																																																																																				0.582	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206855.1	NM_138445	
CDHR3	222256	broad.mit.edu	37	7	105653318	105653318	+	Silent	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:105653318G>T	ENST00000317716.9	+	9	1145	c.1065G>T	c.(1063-1065)ccG>ccT	p.P355P	CDHR3_ENST00000542731.1_Silent_p.P355P|CDHR3_ENST00000478080.1_Silent_p.P267P|CDHR3_ENST00000343407.5_Silent_p.P72P|CDHR3_ENST00000541203.1_3'UTR|CDHR3_ENST00000470188.1_3'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	355	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P355P(1)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TTATGGTGCCGGAAAGAACAG	0.468																																					p.P355P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1065T	7						.						250.0	235.0	240.0					7																	105653318		1981	4175	6156	105440554	SO:0001819	synonymous_variant	222256	exon9			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1065G>T	7.37:g.105653318G>T			105440554	NM_152750	Q8TCI7	Silent	SNP	ENST00000317716.9	37	CCDS47684.1																																																																																				0.468	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750	
DLD	1738	broad.mit.edu	37	7	107556141	107556141	+	Splice_Site	SNP	C	C	T	rs201652869		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:107556141C>T	ENST00000205402.5	+	9	1156	c.875C>T	c.(874-876)tCt>tTt	p.S292F	DLD_ENST00000437604.2_Splice_Site_p.S244F|DLD_ENST00000537148.1_Splice_Site_p.S193F|DLD_ENST00000440410.1_Splice_Site_p.S269F	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	292					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)	p.S292F(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	ATTGATGTTTCGTAAGTATAC	0.313																																					p.S292F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C875T	7						.	C	PHE/SER	0,4406		0,0,2203	48.0	49.0	49.0		875	3.5	1.0	7		49	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice	DLD	NM_000108.3	155	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	292/510	107556141	1,13005	2203	4300	6503	107343377	SO:0001630	splice_region_variant	1738	exon9			AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.875+1C>T	7.37:g.107556141C>T			107343377	NM_000108	B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910567	0.72983	0.0	1.16E-4	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;T;T;T	0.66460	-0.21;-0.21;0.34;-0.21;0.34	5.3	3.51	0.40186	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.208574	0.49916	N	0.000138	T	0.76681	0.4021	M	0.82056	2.57	0.58432	D	0.999999	P;P;D	0.63880	0.879;0.513;0.993	P;B;P	0.55455	0.544;0.329;0.776	T	0.79240	-0.1885	10	0.72032	D	0.01	-1.8583	11.8398	0.52346	0.0:0.8586:0.0:0.1414	.	269;244;292	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	F	292;292;193;269;244;242	ENSP00000205402:S292F;ENSP00000390667:S292F;ENSP00000442399:S193F;ENSP00000417016:S269F;ENSP00000387542:S244F	ENSP00000205402:S292F	S	+	2	0	DLD	107343377	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.247000	0.51422	0.812000	0.34326	0.591000	0.81541	TCT		0.313	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108	Missense_Mutation
LAMB4	22798	broad.mit.edu	37	7	107671367	107671367	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:107671367C>A	ENST00000388781.3	-	32	4959	c.4876G>T	c.(4876-4878)Ggg>Tgg	p.G1626W	LAMB4_ENST00000388780.3_Missense_Mutation_p.G1626W|LAMB4_ENST00000205386.4_Missense_Mutation_p.G1626W|LAMB4_ENST00000483484.1_Intron	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1626	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.G1626W(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCCTCCAGCCCTGATCGCTGC	0.473																																					p.G1626W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4876T	7						.						203.0	155.0	171.0					7																	107671367		2203	4300	6503	107458603	SO:0001583	missense	22798	exon32			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4876G>T	7.37:g.107671367C>A	ENSP00000373433:p.Gly1626Trp		107458603	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	7.968	0.748549	0.15710	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.79141	1.43;1.43;-1.24;1.45	5.01	0.858	0.19030	.	3.052940	0.01089	N	0.005155	T	0.57154	0.2034	N	0.08118	0	0.09310	N	1	P;P	0.50066	0.931;0.574	B;B	0.35240	0.198;0.176	T	0.58399	-0.7643	10	0.72032	D	0.01	.	6.6246	0.22823	0.0:0.5834:0.0:0.4166	.	1626;1626	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	W	1626;1626;652;1626	ENSP00000205386:G1626W;ENSP00000373433:G1626W;ENSP00000416562:G652W;ENSP00000373432:G1626W	ENSP00000205386:G1626W	G	-	1	0	LAMB4	107458603	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	0.058000	0.14301	0.293000	0.22520	0.585000	0.79938	GGG		0.473	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
LAMB4	22798	broad.mit.edu	37	7	107746459	107746459	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:107746459T>C	ENST00000388781.3	-	8	756	c.673A>G	c.(673-675)Aac>Gac	p.N225D	LAMB4_ENST00000388780.3_Missense_Mutation_p.N225D|LAMB4_ENST00000205386.4_Missense_Mutation_p.N225D|LAMB4_ENST00000414450.2_Missense_Mutation_p.N225D|LAMB4_ENST00000418464.1_Missense_Mutation_p.N225D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	225	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.N225D(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATCCTCAGGTTTGTCAATGTC	0.388																																					p.N225D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A673G	7						.						90.0	84.0	86.0					7																	107746459		2203	4300	6503	107533695	SO:0001583	missense	22798	exon8			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.673A>G	7.37:g.107746459T>C	ENSP00000373433:p.Asn225Asp		107533695	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640723	0.87859	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	4.73	4.73	0.59995	Laminin, N-terminal (3);	0.000000	0.53938	D	0.000059	D	0.83339	0.5233	L	0.60957	1.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85396	0.1128	10	0.87932	D	0	.	14.3948	0.67003	0.0:0.0:0.0:1.0	.	225	A4D0S4	LAMB4_HUMAN	D	225	ENSP00000205386:N225D;ENSP00000373433:N225D;ENSP00000373432:N225D;ENSP00000402353:N225D;ENSP00000402265:N225D	ENSP00000205386:N225D	N	-	1	0	LAMB4	107533695	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.170000	0.77587	1.981000	0.57761	0.533000	0.62120	AAC		0.388	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
TFEC	22797	broad.mit.edu	37	7	115582087	115582087	+	Missense_Mutation	SNP	G	G	A	rs376001735		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:115582087G>A	ENST00000265440.7	-	7	703	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	TFEC_ENST00000393485.1_Missense_Mutation_p.R146C|TFEC_ENST00000484212.1_Missense_Mutation_p.R265C|TFEC_ENST00000320239.7_Missense_Mutation_p.R146C|TFEC_ENST00000457268.1_Missense_Mutation_p.R108C	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	175	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R175C(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TTGTTCCAGCGCATATCACTG	0.363																																					p.R146C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C436T	7						.	G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	182.0	172.0	175.0		436,523	5.6	1.0	7		175	0,8600		0,0,4300	no	missense,missense	TFEC	NM_001018058.2,NM_012252.3	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	146/319,175/348	115582087	1,13005	2203	4300	6503	115369323	SO:0001583	missense	22797	exon6			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.523C>T	7.37:g.115582087G>A	ENSP00000265440:p.Arg175Cys		115369323	NM_001018058	B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494825	0.85069	2.27E-4	0.0	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239;ENST00000393485;ENST00000484212	D;D;D;D;D	0.98192	-4.78;-4.78;-4.78;-4.78;-4.78	5.57	5.57	0.84162	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99180	0.9716	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.959;0.959;0.986	D	0.99461	1.0943	10	0.87932	D	0	-8.3726	19.5508	0.95319	0.0:0.0:1.0:0.0	.	265;146;146;175	B7Z757;O14948-3;O14948-2;O14948	.;.;.;TFEC_HUMAN	C	175;108;146;146;265	ENSP00000265440:R175C;ENSP00000387650:R108C;ENSP00000318676:R146C;ENSP00000377125:R146C;ENSP00000417432:R265C	ENSP00000265440:R175C	R	-	1	0	TFEC	115369323	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.830000	0.99415	2.617000	0.88574	0.655000	0.94253	CGC		0.363	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252	
CFTR	1080	broad.mit.edu	37	7	117267579	117267579	+	Nonsense_Mutation	SNP	C	C	T	rs79850223		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:117267579C>T	ENST00000003084.6	+	22	3604	c.3472C>T	c.(3472-3474)Cga>Tga	p.R1158*	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Nonsense_Mutation_p.R1097*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1158					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.R1158*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	ATTTCAGATGCGATCTGTGAG	0.343									Cystic Fibrosis																												p.R1158X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3472T	7	GRCh37	CM920180	CFTR	M	rs79850223	.						66.0	61.0	63.0					7																	117267579		2203	4299	6502	117054815	SO:0001587	stop_gained	1080	exon22	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3472C>T	7.37:g.117267579C>T	ENSP00000003084:p.Arg1158*		117054815	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Nonsense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	40	8.166875	0.98686	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	.	.	.	5.77	3.92	0.45320	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-12.7034	15.4107	0.74917	0.2538:0.7462:0.0:0.0	.	.	.	.	X	1158;1097;1128	.	ENSP00000003084:R1158X	R	+	1	2	CFTR	117054815	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.969000	0.49232	0.855000	0.35359	0.585000	0.79938	CGA		0.343	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
KCND2	3751	broad.mit.edu	37	7	119915142	119915142	+	Silent	SNP	G	G	A	rs116322872	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:119915142G>A	ENST00000331113.4	+	1	1421	c.456G>A	c.(454-456)gcG>gcA	p.A152A		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	152					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.A152A(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGGACGACGCGGATACCGACA	0.632													G|||	30	0.00599042	0.0227	0.0	5008	,	,		17065	0.0		0.0	False		,,,				2504	0.0				p.A152A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G456A	7						.	G		97,4309	79.3+/-117.8	0,97,2106	75.0	77.0	76.0		456	-11.4	0.0	7	dbSNP_132	76	1,8599		0,1,4299	no	coding-synonymous	KCND2	NM_012281.2		0,98,6405	AA,AG,GG		0.0116,2.2015,0.7535		152/631	119915142	98,12908	2203	4300	6503	119702378	SO:0001819	synonymous_variant	3751	exon1			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.456G>A	7.37:g.119915142G>A			119702378	NM_012281	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	CCDS5776.1																																																																																				0.632	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
TMEM106B	54664	broad.mit.edu	37	7	12269442	12269442	+	Silent	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:12269442A>G	ENST00000396667.3	+	6	901	c.579A>G	c.(577-579)aaA>aaG	p.K193K	TMEM106B_ENST00000396668.3_Silent_p.K193K	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	193					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.K193K(1)		NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TTGATATGAAACAAGTAAGAA	0.333																																					p.K193K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A579G	7						.						59.0	60.0	60.0					7																	12269442		2203	4297	6500	12235967	SO:0001819	synonymous_variant	54664	exon5			BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.579A>G	7.37:g.12269442A>G			12235967	NM_001134232	A4D108|Q53FL9|Q8N4L0	Silent	SNP	ENST00000396667.3	37	CCDS5358.1																																																																																				0.333	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374	
AASS	10157	broad.mit.edu	37	7	121773616	121773616	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:121773616G>A	ENST00000393376.1	-	1	260	c.165C>T	c.(163-165)taC>taT	p.Y55Y	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.Y55Y			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	55	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.Y55Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TCAAGACCTTGTATCCCAGAT	0.473																																					p.Y55Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C165T	7						.						110.0	95.0	100.0					7																	121773616		2203	4300	6503	121560852	SO:0001819	synonymous_variant	10157	exon2			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.165C>T	7.37:g.121773616G>A			121560852	NM_005763	O95462	Silent	SNP	ENST00000393376.1	37	CCDS5783.1																																																																																				0.473	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
ASB15	142685	broad.mit.edu	37	7	123267185	123267185	+	Missense_Mutation	SNP	C	C	T	rs564570457|rs138215101	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:123267185C>T	ENST00000451558.1	+	11	1240	c.719C>T	c.(718-720)gCg>gTg	p.A240V	RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.A240V|ASB15_ENST00000451215.1_Missense_Mutation_p.A240V|RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000451016.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.A240V|ASB15_ENST00000275699.3_Missense_Mutation_p.A240V|RP11-390E23.3_ENST00000429396.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	240					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.A240V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CTTGCTTTGGCGGATGATGGG	0.498																																					p.A240V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C719T	7						.						176.0	141.0	153.0					7																	123267185		2203	4300	6503	123054421	SO:0001583	missense	142685	exon7			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.719C>T	7.37:g.123267185C>T	ENSP00000397655:p.Ala240Val		123054421	NM_080928	Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771686	0.90108	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000447789;ENST00000275699	T;T;T;T;T;T	0.72835	2.33;2.33;2.33;2.33;-0.69;2.33	5.58	5.58	0.84498	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000002	T	0.81908	0.4922	L	0.49350	1.555	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.82544	-0.0404	10	0.66056	D	0.02	-4.0069	19.5733	0.95430	0.0:1.0:0.0:0.0	.	240	Q8WXK1	ASB15_HUMAN	V	240;240;240;240;29;240;240	ENSP00000397655:A240V;ENSP00000390963:A240V;ENSP00000416433:A240V;ENSP00000438643:A240V;ENSP00000401166:A240V;ENSP00000275699:A240V	ENSP00000275699:A240V	A	+	2	0	ASB15	123054421	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	7.456000	0.80751	2.618000	0.88619	0.563000	0.77884	GCG		0.498	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1		
FLNC	2318	broad.mit.edu	37	7	128488083	128488083	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:128488083C>T	ENST00000325888.8	+	26	4802	c.4541C>T	c.(4540-4542)aCg>aTg	p.T1514M	FLNC_ENST00000346177.6_Missense_Mutation_p.T1514M|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1514					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.T1514M(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGCCCTACACGGTAGCCGTC	0.662																																					p.T1514M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4541T	7						.						26.0	34.0	32.0					7																	128488083		2146	4237	6383	128275319	SO:0001583	missense	2318	exon26			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4541C>T	7.37:g.128488083C>T	ENSP00000327145:p.Thr1514Met		128275319	NM_001458	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006306	0.35415	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85556	-2.0;-2.0	5.12	5.12	0.69794	Immunoglobulin E-set (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88786	0.6531	L	0.53249	1.67	0.53688	D	0.99997	D;B	0.89917	1.0;0.381	D;B	0.70487	0.969;0.103	D	0.85794	0.1369	10	0.23891	T	0.37	.	12.7724	0.57429	0.0:0.9136:0.0:0.0864	.	1514;1514	Q14315-2;Q14315	.;FLNC_HUMAN	M	1514	ENSP00000327145:T1514M;ENSP00000344002:T1514M	ENSP00000327145:T1514M	T	+	2	0	FLNC	128275319	0.724000	0.28038	0.959000	0.39883	0.729000	0.41735	1.492000	0.35594	2.543000	0.85770	0.561000	0.74099	ACG		0.662	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
EPHA1	2041	broad.mit.edu	37	7	143098433	143098433	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:143098433C>T	ENST00000275815.3	-	3	502	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	139	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.R139Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GAACAAGGGCCGTCGGAGCTG	0.587																																					p.R139Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G416A	7						.						90.0	93.0	92.0					7																	143098433		2203	4300	6503	142808555	SO:0001583	missense	2041	exon3			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.416G>A	7.37:g.143098433C>T	ENSP00000275815:p.Arg139Gln		142808555	NM_005232	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492843	0.84962	.	.	ENSG00000146904	ENST00000275815	T	0.09350	2.99	4.63	4.63	0.57726	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.49305	D	0.000149	T	0.29817	0.0745	L	0.56769	1.78	0.38759	D	0.954287	D	0.89917	1.0	D	0.87578	0.998	T	0.05386	-1.0888	10	0.66056	D	0.02	.	15.8453	0.78883	0.0:1.0:0.0:0.0	.	139	P21709	EPHA1_HUMAN	Q	139	ENSP00000275815:R139Q	ENSP00000275815:R139Q	R	-	2	0	EPHA1	142808555	0.915000	0.31059	0.990000	0.47175	0.995000	0.86356	3.980000	0.56895	2.402000	0.81655	0.655000	0.94253	CGG		0.587	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		
CUL1	8454	broad.mit.edu	37	7	148496426	148496426	+	Silent	SNP	C	C	T	rs565504382	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:148496426C>T	ENST00000325222.4	+	21	2475	c.2196C>T	c.(2194-2196)ggC>ggT	p.G732G	CUL1_ENST00000409469.1_Silent_p.G732G|CUL1_ENST00000602748.1_Silent_p.G732G	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	732					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.G732G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGTTACTTGGCGAGGTCCTCA	0.453													c|||	2	0.000399361	0.0008	0.0	5008	,	,		18578	0.0		0.0	False		,,,				2504	0.001				p.G732G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2196T	7						.						153.0	115.0	128.0					7																	148496426		2203	4300	6503	148127359	SO:0001819	synonymous_variant	8454	exon21			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.2196C>T	7.37:g.148496426C>T			148127359	NM_003592	D3DWG3|O60719|Q08AL6|Q8IYW1	Silent	SNP	ENST00000325222.4	37	CCDS34772.1																																																																																				0.453	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592	
ZNF783	100289678	broad.mit.edu	37	7	148963535	148963535	+	Missense_Mutation	SNP	C	C	T	rs570103600	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:148963535C>T	ENST00000434415.1	+	2	297	c.134C>T	c.(133-135)aCg>aTg	p.T45M		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T45M(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			ACACTGTGGACGGTGGTGGCC	0.597													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15884	0.0		0.0	False		,,,				2504	0.0				p.T45M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C134T	7						.						33.0	37.0	35.0					7																	148963535		2203	4300	6503	148594468	SO:0001583	missense	155060	exon2			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.134C>T	7.37:g.148963535C>T	ENSP00000410890:p.Thr45Met		148594468	NM_001195220	C9J9J2	Missense_Mutation	SNP	ENST00000434415.1	37	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697392	0.68386	.	.	ENSG00000204946	ENST00000434415	T	0.24151	1.87	4.87	4.87	0.63330	.	0.000000	0.33980	N	0.004363	T	0.39226	0.1070	L	0.55834	1.745	0.80722	D	1	.	.	.	.	.	.	T	0.21586	-1.0241	8	0.87932	D	0	-5.772	13.5053	0.61481	0.0:1.0:0.0:0.0	.	.	.	.	M	45	ENSP00000410890:T45M	ENSP00000367291:T45M	T	+	2	0	ZNF783	148594468	0.960000	0.32886	0.952000	0.39060	0.993000	0.82548	2.191000	0.42640	2.260000	0.74910	0.655000	0.94253	ACG		0.597	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220	
ZNF783	100289678	broad.mit.edu	37	7	148963644	148963644	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:148963644C>T	ENST00000434415.1	+	2	406	c.243C>T	c.(241-243)tgC>tgT	p.C81C		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.C81C(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			TGGCCGACTGCGAGAAGACAG	0.647																																					p.C81C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C243T	7						.						60.0	61.0	60.0					7																	148963644		2203	4300	6503	148594577	SO:0001819	synonymous_variant	155060	exon2			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.243C>T	7.37:g.148963644C>T			148594577	NM_001195220	C9J9J2	Silent	SNP	ENST00000434415.1	37	CCDS56519.1																																																																																				0.647	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220	
INTS1	26173	broad.mit.edu	37	7	1526651	1526651	+	Silent	SNP	G	G	A	rs200150900	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:1526651G>A	ENST00000404767.3	-	21	2818	c.2733C>T	c.(2731-2733)tgC>tgT	p.C911C	INTS1_ENST00000389470.4_Silent_p.C1054C	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	911					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.C1054C(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCAGGAACTCGCACAGACACT	0.667													G|||	2	0.000399361	0.0008	0.0	5008	,	,		13354	0.001		0.0	False		,,,				2504	0.0				p.C911C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2733T	7						.						47.0	50.0	49.0					7																	1526651		2183	4264	6447	1493177	SO:0001819	synonymous_variant	26173	exon21			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2733C>T	7.37:g.1526651G>A			1493177	NM_001080453	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	CCDS47526.1																																																																																				0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
INTS1	26173	broad.mit.edu	37	7	1539938	1539938	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:1539938G>A	ENST00000404767.3	-	4	499	c.414C>T	c.(412-414)atC>atT	p.I138I	INTS1_ENST00000389470.4_Silent_p.I266I|INTS1_ENST00000493531.1_5'UTR	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	138					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.I266I(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCACGCCCTCGATCCTGTCAT	0.662																																					p.I138I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T	7						.						43.0	49.0	47.0					7																	1539938		2171	4259	6430	1506464	SO:0001819	synonymous_variant	26173	exon4			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.414C>T	7.37:g.1539938G>A			1506464	NM_001080453	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	CCDS47526.1																																																																																				0.662	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
ZNF746	155061	broad.mit.edu	37	7	149171510	149171510	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:149171510T>C	ENST00000340622.3	-	7	2180	c.1900A>G	c.(1900-1902)Agc>Ggc	p.S634G	ZNF746_ENST00000458143.2_Missense_Mutation_p.S635G			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	634					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.S634G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCCAGGACGCTGAGGCCACAA	0.667																																					p.S635G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1903G	7						.						30.0	28.0	29.0					7																	149171510		2201	4298	6499	148802443	SO:0001583	missense	155061	exon7			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1900A>G	7.37:g.149171510T>C	ENSP00000345140:p.Ser634Gly		148802443	NM_001163474	A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792927	0.50102	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.08546	3.11;3.08	5.36	1.76	0.24704	.	0.257847	0.27577	N	0.018760	T	0.05273	0.0140	N	0.19112	0.55	0.20196	N	0.999929	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33574	-0.9863	10	0.52906	T	0.07	-2.3554	7.4907	0.27460	0.0:0.2612:0.0:0.7388	.	635;634	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	G	634;635	ENSP00000345140:S634G;ENSP00000395007:S635G	ENSP00000345140:S634G	S	-	1	0	ZNF746	148802443	.	.	0.734000	0.30879	0.889000	0.51656	.	.	0.358000	0.24211	0.379000	0.24179	AGC		0.667	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557	
SUN1	23353	broad.mit.edu	37	7	883126	883126	+	Silent	SNP	G	G	A	rs370251394		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:883126G>A	ENST00000405266.1	+	5	651	c.627G>A	c.(625-627)tcG>tcA	p.S209S	SUN1_ENST00000403868.1_Silent_p.S209S|SUN1_ENST00000389574.3_Silent_p.S159S|SUN1_ENST00000401592.1_Silent_p.S209S|SUN1_ENST00000457378.2_Silent_p.S230S|SUN1_ENST00000456758.2_Silent_p.S267S|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000425407.2_Silent_p.S159S			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	209	SYNE2-binding.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.S159S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCCCGTGTCGAGAGTTTATT	0.522																																					p.S209S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G627A	7						.	G	,,,,	0,3756		0,0,1878	90.0	104.0	100.0		627,,690,627,477	-8.8	0.0	7		100	1,8193		0,1,4096	no	coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous	SUN1	NM_001130965.2,NM_001171944.1,NM_001171945.1,NM_001171946.1,NM_025154.5	,,,,	0,1,5974	AA,AG,GG		0.0122,0.0,0.0084	,,,,	209/786,,230/279,209/258,159/703	883126	1,11949	1878	4097	5975	849652	SO:0001819	synonymous_variant	23353	exon5			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.627G>A	7.37:g.883126G>A			849652	NM_001130965	A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Silent	SNP	ENST00000405266.1	37		.	.	.	.	.	.	.	.	.	.	G	4.232	0.041992	0.08196	0.0	1.22E-4	ENSG00000164828	ENST00000419312	.	.	.	4.4	-8.8	0.00817	.	.	.	.	.	T	0.34978	0.0916	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.51957	-0.8639	4	.	.	.	-5.5543	12.2413	0.54544	0.6045:0.3114:0.0842:0.0	.	.	.	.	Q	50	.	.	R	+	2	0	SUN1	849652	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.451000	0.00121	-5.250000	0.00018	-1.366000	0.01203	CGA		0.522	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154	
TTYH3	80727	broad.mit.edu	37	7	2689210	2689210	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:2689210G>A	ENST00000258796.7	+	6	937	c.732G>A	c.(730-732)ctG>ctA	p.L244L	TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000403167.1_Silent_p.L73L|TTYH3_ENST00000407643.1_Silent_p.L212L	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	244					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)	p.L244L(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GGGTCTGCCTGCTGGGAGTCC	0.711																																					p.L244L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G732A	7						.						23.0	20.0	21.0					7																	2689210		2194	4291	6485	2655736	SO:0001819	synonymous_variant	80727	exon6				CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.732G>A	7.37:g.2689210G>A			2655736	NM_025250	A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	37	CCDS34588.1																																																																																				0.711	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523	
CARD11	84433	broad.mit.edu	37	7	2976744	2976744	+	Missense_Mutation	SNP	C	C	T	rs577877958		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:2976744C>T	ENST00000396946.4	-	9	1671	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	423					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.R416Q(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCCTCCCGCCGCACCATCTC	0.607			Mis		DLBCL								C|||	1	0.000199681	0.0	0.0	5008	,	,		20627	0.0		0.0	False		,,,				2504	0.001				p.R423Q			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1268A	7						.						146.0	117.0	127.0					7																	2976744		2203	4300	6503	2943270	SO:0001583	missense	84433	exon9			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1268G>A	7.37:g.2976744C>T	ENSP00000380150:p.Arg423Gln		2943270	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	36	5.697925	0.96802	.	.	ENSG00000198286	ENST00000396946	T	0.33654	1.4	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	N	0.16307	0.4	0.58432	D	0.999999	P	0.51933	0.949	B	0.43809	0.432	T	0.03112	-1.1071	10	0.20519	T	0.43	-34.3605	17.7576	0.88453	0.0:1.0:0.0:0.0	.	423	Q9BXL7	CAR11_HUMAN	Q	423	ENSP00000380150:R423Q	ENSP00000380150:R423Q	R	-	2	0	CARD11	2943270	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.869000	0.69613	2.447000	0.82792	0.561000	0.74099	CGG		0.607	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
GLCCI1	113263	broad.mit.edu	37	7	8062168	8062168	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:8062168C>T	ENST00000223145.5	+	3	1222	c.665C>T	c.(664-666)gCg>gTg	p.A222V	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	222						cytoplasm (GO:0005737)		p.A222V(1)		endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CAGCGTTCTGCGTCATGGGGG	0.363																																					p.A222V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C665T	7						.						179.0	166.0	170.0					7																	8062168		2203	4300	6503	8028693	SO:0001583	missense	113263	exon3			BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.665C>T	7.37:g.8062168C>T	ENSP00000223145:p.Ala222Val		8028693	NM_138426	A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755850	0.89843	.	.	ENSG00000106415	ENST00000223145;ENST00000430798	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.78355	0.4270	M	0.74647	2.275	0.58432	D	0.99999	D	0.76494	0.999	D	0.78314	0.991	T	0.80160	-0.1498	9	0.66056	D	0.02	-27.082	15.5927	0.76550	0.0:1.0:0.0:0.0	.	222	Q86VQ1	GLCI1_HUMAN	V	222;110	.	ENSP00000223145:A222V	A	+	2	0	GLCCI1	8028693	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	4.781000	0.62389	2.734000	0.93682	0.650000	0.86243	GCG		0.363	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426	
ANKMY2	57037	broad.mit.edu	37	7	16650266	16650266	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:16650266C>A	ENST00000306999.2	-	6	897	c.654G>T	c.(652-654)ttG>ttT	p.L218F		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	218						cilium (GO:0005929)	metal ion binding (GO:0046872)	p.L218F(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCTTCATAGCCAATACTTCAT	0.363																																					p.L218F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G654T	7						.						153.0	138.0	143.0					7																	16650266		2203	4300	6503	16616791	SO:0001583	missense	57037	exon6			AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.654G>T	7.37:g.16650266C>A	ENSP00000303570:p.Leu218Phe		16616791	NM_020319	A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731057	0.69074	.	.	ENSG00000106524	ENST00000306999	D	0.83673	-1.75	5.78	1.75	0.24633	.	0.000000	0.85682	D	0.000000	D	0.87830	0.6276	M	0.82056	2.57	0.54753	D	0.99998	D	0.89917	1.0	D	0.77004	0.989	D	0.84284	0.0496	10	0.39692	T	0.17	-28.3613	4.6555	0.12615	0.113:0.5909:0.1005:0.1956	.	218	Q8IV38	ANKY2_HUMAN	F	218	ENSP00000303570:L218F	ENSP00000303570:L218F	L	-	3	2	ANKMY2	16616791	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	1.914000	0.39966	0.775000	0.33450	0.655000	0.94253	TTG		0.363	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319	
AHR	196	broad.mit.edu	37	7	17378642	17378642	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:17378642G>A	ENST00000242057.4	+	10	1836	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	398					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R398Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TTACGAAAACGAAATACGAAG	0.333																																					p.R398Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1193A	7						.						121.0	125.0	124.0					7																	17378642		2203	4300	6503	17345167	SO:0001583	missense	196	exon10			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1193G>A	7.37:g.17378642G>A	ENSP00000242057:p.Arg398Gln		17345167	NM_001621	A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950388	0.73787	.	.	ENSG00000106546	ENST00000242057	T	0.08458	3.09	6.07	5.2	0.72013	.	0.000000	0.64402	D	0.000001	T	0.37544	0.1007	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.50372	-0.8836	10	0.87932	D	0	.	15.381	0.74654	0.0664:0.0:0.9336:0.0	.	398	P35869	AHR_HUMAN	Q	398	ENSP00000242057:R398Q	ENSP00000242057:R398Q	R	+	2	0	AHR	17345167	1.000000	0.71417	0.724000	0.30704	0.200000	0.23975	9.779000	0.99018	1.583000	0.49898	0.655000	0.94253	CGA		0.333	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621	
HDAC9	9734	broad.mit.edu	37	7	18801810	18801810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:18801810G>T	ENST00000432645.2	+	14	2065	c.2065G>T	c.(2065-2067)Gaa>Taa	p.E689*	HDAC9_ENST00000441542.2_Nonsense_Mutation_p.E692*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.E648*|HDAC9_ENST00000406451.4_Nonsense_Mutation_p.E689*	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	689	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.E692*(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGCCTGGAGGAAATACAGCT	0.483																																					p.E689X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2065T	7						.						72.0	72.0	72.0					7																	18801810		1932	4130	6062	18768335	SO:0001587	stop_gained	9734	exon15			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2065G>T	7.37:g.18801810G>T	ENSP00000410337:p.Glu689*		18768335	NM_178423	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Nonsense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	39	7.616022	0.98390	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	.	.	.	5.56	4.69	0.59074	.	0.084642	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-37.7813	13.0689	0.59048	0.0746:0.0:0.9254:0.0	.	.	.	.	X	689;648;689;692;601	.	ENSP00000339165:E601X	E	+	1	0	HDAC9	18768335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.990000	0.88215	1.485000	0.48380	0.655000	0.94253	GAA		0.483	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
DNAH11	8701	broad.mit.edu	37	7	21856162	21856162	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:21856162C>T	ENST00000409508.3	+	64	10441	c.10410C>T	c.(10408-10410)aaC>aaT	p.N3470N	DNAH11_ENST00000328843.6_Silent_p.N3477N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3477	AAA 5. {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.N3477N(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						CCTGGAATAACGAAGGACTGC	0.483									Kartagener syndrome																												p.R3478X												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C10432T	7						.						88.0	84.0	85.0					7																	21856162		1991	4149	6140	21822687	SO:0001819	synonymous_variant	8701	exon64	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.10410C>T	7.37:g.21856162C>T			21822687	NM_003777	Q9UJ82	Silent	SNP	ENST00000409508.3	37																																																																																					0.483	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
STK31	56164	broad.mit.edu	37	7	23809351	23809351	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:23809351C>T	ENST00000355870.3	+	13	1808	c.1689C>T	c.(1687-1689)tgC>tgT	p.C563C	STK31_ENST00000428484.1_Silent_p.C540C|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Silent_p.C540C|STK31_ENST00000433467.2_Silent_p.C563C	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	563						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.C563C(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						CAAGTGTCTGCAAAGAGCTGG	0.388																																					p.C540C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1620T	7						.						202.0	198.0	199.0					7																	23809351		2203	4300	6503	23775876	SO:0001819	synonymous_variant	56164	exon13			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.1689C>T	7.37:g.23809351C>T			23775876	NM_001122833	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	CCDS5386.1																																																																																				0.388	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
HOXA6	3203	broad.mit.edu	37	7	27186987	27186987	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:27186987C>T	ENST00000222728.3	-	1	406	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000524304.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	128					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A128T(1)		central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						TTCCGGTCGGCGCCTTCGTCA	0.612																																					p.A128T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G382A	7						.						84.0	81.0	82.0					7																	27186987		2203	4300	6503	27153512	SO:0001583	missense	3203	exon1				CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"""Homeoboxes / ANTP class : HOXL subclass"""	5107	protein-coding gene	gene with protein product		142951	"""homeo box A6"""	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.382G>A	7.37:g.27186987C>T	ENSP00000222728:p.Ala128Thr		27153512	NM_024014	A4D192|Q2M3G3|Q9UPM0	Missense_Mutation	SNP	ENST00000222728.3	37	CCDS5407.1	.	.	.	.	.	.	.	.	.	.	c	9.271	1.045556	0.19748	.	.	ENSG00000106006	ENST00000222728	D	0.90955	-2.76	5.07	1.34	0.21922	.	1.281110	0.05599	N	0.576036	T	0.72187	0.3429	N	0.00926	-1.1	0.24446	N	0.994508	B	0.02656	0.0	B	0.01281	0.0	T	0.62015	-0.6943	10	0.10636	T	0.68	.	7.0815	0.25234	0.1323:0.0832:0.0:0.7845	.	128	P31267	HXA6_HUMAN	T	128	ENSP00000222728:A128T	ENSP00000222728:A128T	A	-	1	0	HOXA6	27153512	0.624000	0.27102	0.999000	0.59377	0.994000	0.84299	0.398000	0.20899	-0.034000	0.13713	-0.142000	0.14014	GCC		0.612	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1		
FKBP14	55033	broad.mit.edu	37	7	30065965	30065965	+	Missense_Mutation	SNP	C	C	A	rs150170721		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:30065965C>A	ENST00000222803.5	-	1	335	c.160G>T	c.(160-162)Ggc>Tgc	p.G54C	PLEKHA8_ENST00000258679.7_5'Flank|PLEKHA8_ENST00000396257.2_5'Flank|PLEKHA8_ENST00000396259.1_5'Flank|AC007285.6_ENST00000419103.1_RNA|PLEKHA8_ENST00000449726.1_5'Flank|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	54	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.G54C(1)		breast(1)|large_intestine(2)|lung(2)	5						TCTAAGTAGCCTTCATAGTGG	0.433																																					p.G54C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G160T	7						.						151.0	152.0	152.0					7																	30065965		2203	4300	6503	30032490	SO:0001583	missense	55033	exon1			AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.160G>T	7.37:g.30065965C>A	ENSP00000222803:p.Gly54Cys		30032490	NM_017946		Missense_Mutation	SNP	ENST00000222803.5	37	CCDS5423.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358229	0.95854	.	.	ENSG00000106080	ENST00000222803	T	0.61859	0.07	6.08	6.08	0.98989	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.044157	0.85682	D	0.000000	D	0.82379	0.5024	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83223	-0.0067	10	0.42905	T	0.14	-32.7721	19.2359	0.93858	0.0:1.0:0.0:0.0	.	54	Q9NWM8	FKB14_HUMAN	C	54	ENSP00000222803:G54C	ENSP00000222803:G54C	G	-	1	0	FKBP14	30032490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	GGC		0.433	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946	
ADCYAP1R1	117	broad.mit.edu	37	7	31104495	31104495	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:31104495T>C	ENST00000304166.4	+	3	389	c.100T>C	c.(100-102)Tgc>Cgc	p.C34R	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.C34R|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.C34R|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.C34R	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	34					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.C34R(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCAAGCCATGTGCCTGGAGAA	0.592																																					p.C34R	Ovarian(44;225 1186 2158 11092)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T100C	7						.						83.0	69.0	74.0					7																	31104495		2203	4300	6503	31071020	SO:0001583	missense	117	exon3				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.100T>C	7.37:g.31104495T>C	ENSP00000306620:p.Cys34Arg		31071020	NM_001199636	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930057	0.73327	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000431811;ENST00000396211;ENST00000409489	T;T;T;T;T	0.56776	0.67;0.92;0.44;0.67;0.67	5.58	5.58	0.84498	GPCR, family 2, extracellular hormone receptor domain (1);	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D	0.89917	0.986;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.864;0.954;0.999;1.0;0.997	T	0.70799	-0.4774	10	0.87932	D	0	.	12.1376	0.53981	0.0:0.0:0.0:1.0	.	34;34;34;34;34	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	R	34	ENSP00000306620:C34R;ENSP00000387335:C34R;ENSP00000400893:C34R;ENSP00000379514:C34R;ENSP00000386395:C34R	ENSP00000306620:C34R	C	+	1	0	ADCYAP1R1	31071020	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	4.240000	0.58701	2.115000	0.64714	0.460000	0.39030	TGC		0.592	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118	
AVL9	23080	broad.mit.edu	37	7	32593350	32593350	+	Nonsense_Mutation	SNP	C	C	T	rs149731136		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:32593350C>T	ENST00000318709.4	+	7	762	c.541C>T	c.(541-543)Cga>Tga	p.R181*	AVL9_ENST00000409301.1_Nonsense_Mutation_p.R181*|AVL9_ENST00000404479.1_Nonsense_Mutation_p.R181*	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	181					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)		p.R181*(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTGTCACCTCGAGATCTTGT	0.363																																					p.R181X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C541T	7						.	C	stop/ARG	0,4406		0,0,2203	175.0	152.0	160.0		541	5.9	1.0	7	dbSNP_134	160	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	AVL9	NM_015060.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		181/649	32593350	1,13005	2203	4300	6503	32559875	SO:0001587	stop_gained	23080	exon7			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.541C>T	7.37:g.32593350C>T	ENSP00000315568:p.Arg181*		32559875	NM_015060	Q92573	Nonsense_Mutation	SNP	ENST00000318709.4	37	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	40	7.918173	0.98560	0.0	1.16E-4	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.3575	14.9745	0.71261	0.1426:0.8574:0.0:0.0	.	.	.	.	X	181;181;181;181;112	.	ENSP00000315568:R181X	R	+	1	2	AVL9	32559875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.652000	0.46682	2.776000	0.95493	0.650000	0.86243	CGA		0.363	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060	
NPSR1	387129	broad.mit.edu	37	7	34874019	34874019	+	Missense_Mutation	SNP	G	G	A	rs116249859	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:34874019G>A	ENST00000360581.1	+	6	832	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	NPSR1_ENST00000381542.1_Missense_Mutation_p.R169Q|NPSR1_ENST00000531252.1_Missense_Mutation_p.R224Q|NPSR1_ENST00000381539.3_Missense_Mutation_p.R235Q|NPSR1_ENST00000359791.1_Missense_Mutation_p.R235Q	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	235						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)	p.R235Q(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ATTGTGATCCGAACTATTTGG	0.438													G|||	4	0.000798722	0.0	0.0	5008	,	,		21671	0.004		0.0	False		,,,				2504	0.0				p.R235Q												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G704A	7						.						197.0	169.0	179.0					7																	34874019		2203	4300	6503	34840544	SO:0001583	missense	387129	exon6			AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.704G>A	7.37:g.34874019G>A	ENSP00000353788:p.Arg235Gln		34840544	NM_207172	A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	CCDS5444.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	21.6	4.168595	0.78339	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	4.75	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.193094	0.29260	N	0.012678	T	0.56572	0.1994	M	0.64080	1.96	0.40488	D	0.980513	D;D;D;P;D;P	0.89917	1.0;1.0;1.0;0.892;1.0;0.911	D;P;D;P;P;P	0.66716	0.946;0.801;0.91;0.474;0.801;0.541	T	0.55405	-0.8146	10	0.31617	T	0.26	-5.4177	11.8755	0.52544	0.0859:0.0:0.9141:0.0	.	169;224;169;235;235;235	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	Q	235;169;235;224;235	ENSP00000353788:R235Q;ENSP00000370953:R169Q;ENSP00000352839:R235Q;ENSP00000433258:R224Q;ENSP00000370950:R235Q	ENSP00000352839:R235Q	R	+	2	0	NPSR1	34840544	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.383000	0.44354	1.212000	0.43366	0.555000	0.69702	CGA		0.438	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173	
AMPH	273	broad.mit.edu	37	7	38502589	38502589	+	Missense_Mutation	SNP	G	G	A	rs151055033		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:38502589G>A	ENST00000356264.2	-	10	1089	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	AMPH_ENST00000325590.5_Missense_Mutation_p.R292W|AMPH_ENST00000428293.2_Missense_Mutation_p.R292W	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	292					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.R292W(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GAAGGTGACCGAGGCCGTGCT	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18709	0.0		0.0	False		,,,				2504	0.0				p.R292W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C874T	7						.						135.0	128.0	130.0					7																	38502589		2203	4300	6503	38469114	SO:0001583	missense	273	exon10				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.874C>T	7.37:g.38502589G>A	ENSP00000348602:p.Arg292Trp		38469114	NM_139316	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	18.47|18.47	3.631699|3.631699	0.67015|0.67015	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070|ENST00000441628	T;T;T|.	0.49432|.	0.78;0.78;0.78|.	6.17|6.17	-0.324|-0.324	0.12706|0.12706	.|.	0.238754|.	0.47455|.	D|.	0.000224|.	T|T	0.31071|0.31071	0.0785|0.0785	N|N	0.08118|0.08118	0|0	0.31913|0.31913	N|N	0.614416|0.614416	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;P;P|.	0.65140|.	0.932;0.895;0.893|.	T|T	0.28038|0.28038	-1.0056|-1.0056	10|5	0.87932|.	D|.	0|.	-14.774|-14.774	16.7578|16.7578	0.85504|0.85504	0.0:0.0:0.443:0.557|0.0:0.0:0.443:0.557	.|.	292;292;48|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	W|L	292;292;292;62;295|42	ENSP00000317441:R292W;ENSP00000348602:R292W;ENSP00000390734:R292W|.	ENSP00000317441:R292W|.	R|S	-|-	1|2	2|0	AMPH|AMPH	38469114|38469114	1.000000|1.000000	0.71417|0.71417	0.700000|0.700000	0.30305|0.30305	0.621000|0.621000	0.37620|0.37620	1.893000|1.893000	0.39758|0.39758	-0.265000|-0.265000	0.09352|0.09352	-0.262000|-0.262000	0.10625|0.10625	CGG|TCG		0.567	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
POLM	27434	broad.mit.edu	37	7	44113770	44113770	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:44113770G>A	ENST00000242248.5	-	8	1132	c.1031C>T	c.(1030-1032)gCg>gTg	p.A344V	POLM_ENST00000335195.6_Intron|POLM_ENST00000492971.1_5'UTR|POLM_ENST00000395831.3_Intron	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	344					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.A344V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CAGCAGCCCCGCCTCCTGACC	0.657								DNA polymerases (catalytic subunits)																													p.A344V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1031T	7						.						42.0	36.0	38.0					7																	44113770		2203	4300	6503	44080295	SO:0001583	missense	27434	exon8			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.1031C>T	7.37:g.44113770G>A	ENSP00000242248:p.Ala344Val		44080295	NM_013284	D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498211	0.26861	.	.	ENSG00000122678	ENST00000242248	T	0.30182	1.54	5.67	0.965	0.19661	DNA-directed DNA polymerase X (1);	.	.	.	.	T	0.16085	0.0387	N	0.16903	0.455	0.80722	D	1	B	0.15719	0.014	B	0.04013	0.001	T	0.08827	-1.0703	9	0.28530	T	0.3	.	7.5611	0.27851	0.467:0.0:0.533:0.0	.	344	Q9NP87	DPOLM_HUMAN	V	344	ENSP00000242248:A344V	ENSP00000242248:A344V	A	-	2	0	POLM	44080295	0.000000	0.05858	0.537000	0.28052	0.522000	0.34438	-1.232000	0.02936	-0.103000	0.12175	-0.156000	0.13503	GCG		0.657	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284	
ADCY1	107	broad.mit.edu	37	7	45717783	45717783	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:45717783G>A	ENST00000297323.7	+	10	1841	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	607					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.E607K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTTCAGGACGAGTATTTCAC	0.532																																					p.E607K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1819A	7						.						221.0	203.0	209.0					7																	45717783		2203	4300	6503	45684308	SO:0001583	missense	107	exon10			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1819G>A	7.37:g.45717783G>A	ENSP00000297323:p.Glu607Lys		45684308	NM_021116	A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194024	0.58017	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.59638	0.25	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	L	0.43152	1.355	0.80722	D	1	P	0.38788	0.647	B	0.26310	0.068	T	0.42258	-0.9462	10	0.09590	T	0.72	.	16.1939	0.82011	0.0:0.0:1.0:0.0	.	607	Q08828	ADCY1_HUMAN	K	607	ENSP00000297323:E607K	ENSP00000297323:E607K	E	+	1	0	ADCY1	45684308	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.205000	0.95048	2.482000	0.83794	0.655000	0.94253	GAG		0.532	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
GRB10	2887	broad.mit.edu	37	7	50672999	50672999	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:50672999G>A	ENST00000401949.1	-	15	1846	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	GRB10_ENST00000398810.2_Silent_p.G401G|GRB10_ENST00000402497.1_Silent_p.G401G|GRB10_ENST00000357271.5_Silent_p.G413G|GRB10_ENST00000402578.1_Silent_p.G401G|GRB10_ENST00000407526.1_Silent_p.G401G|GRB10_ENST00000335866.3_Silent_p.G401G|GRB10_ENST00000403097.1_Silent_p.G453G|GRB10_ENST00000439599.1_Silent_p.G453G|GRB10_ENST00000398812.2_Silent_p.G459G|GRB10_ENST00000406641.1_Silent_p.G401G			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	459					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|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 phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.G453G(1)|p.G459G(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TCCAGGCGTGGCCCTCCTCCA	0.637									Russell-Silver syndrome																												p.G413G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1239T	7						.						39.0	40.0	40.0					7																	50672999		1888	4102	5990	50640493	SO:0001819	synonymous_variant	2887	exon11	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1377C>T	7.37:g.50672999G>A			50640493	NM_001001549	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	CCDS43582.1																																																																																				0.637	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1		
ASL	435	broad.mit.edu	37	7	65548152	65548152	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:65548152G>A	ENST00000304874.9	+	6	539	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	ASL_ENST00000395331.3_Missense_Mutation_p.R146Q|ASL_ENST00000380839.4_Missense_Mutation_p.R146Q|ASL_ENST00000395332.3_Missense_Mutation_p.R146Q	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	146					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)	p.R146Q(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	ATGGTGGATCGGGCAGAGGCG	0.637																																					p.R146Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G437A	7						.						40.0	38.0	38.0					7																	65548152		2203	4300	6503	65185587	SO:0001583	missense	435	exon5				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.437G>A	7.37:g.65548152G>A	ENSP00000307188:p.Arg146Gln		65185587	NM_001024944	E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.974000	0.74246	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331	D;D;D;D;D	0.99429	-5.89;-5.89;-5.89;-5.89;-5.89	4.62	4.62	0.57501	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	L	0.39467	1.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.999;0.916;0.999	D	0.99844	1.1064	10	0.10377	T	0.69	.	16.6169	0.84918	0.0:0.0:1.0:0.0	.	146;146;146;146	B4DU69;E9PE48;E7EMI0;P04424	.;.;.;ARLY_HUMAN	Q	146;146;146;81;146	ENSP00000307188:R146Q;ENSP00000370219:R146Q;ENSP00000378741:R146Q;ENSP00000354710:R81Q;ENSP00000378740:R146Q	ENSP00000307188:R146Q	R	+	2	0	ASL	65185587	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	6.771000	0.74996	2.401000	0.81631	0.407000	0.27541	CGG		0.637	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048	
TMEM248	55069	broad.mit.edu	37	7	66418325	66418325	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:66418325G>A	ENST00000341567.4	+	6	1148	c.893G>A	c.(892-894)cGt>cAt	p.R298H		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	298						integral component of membrane (GO:0016021)		p.R298H(1)									AGCAAATTGCGTCAGAGCAAT	0.443																																					p.R298H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G893A	7						.						180.0	169.0	173.0					7																	66418325		2203	4300	6503	66055760	SO:0001583	missense	55069	exon6				CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.893G>A	7.37:g.66418325G>A	ENSP00000340668:p.Arg298His		66055760	NM_017994	Q53H07|Q96FR2	Missense_Mutation	SNP	ENST00000341567.4	37	CCDS5536.1	.	.	.	.	.	.	.	.	.	.	G	35	5.523703	0.96431	.	.	ENSG00000106609	ENST00000341567	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.68559	0.3014	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.70288	-0.4913	9	0.72032	D	0.01	-0.5093	18.9796	0.92751	0.0:0.0:1.0:0.0	.	298	Q9NWD8	CG042_HUMAN	H	298	.	ENSP00000340668:R298H	R	+	2	0	C7orf42	66055760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.394000	0.97261	2.723000	0.93209	0.655000	0.94253	CGT		0.443	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994	
NSUN5	55695	broad.mit.edu	37	7	72718372	72718372	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:72718372C>T	ENST00000252594.6	-	7	804	c.789G>A	c.(787-789)cgG>cgA	p.R263R	NSUN5_ENST00000428206.1_Silent_p.R225R|NSUN5_ENST00000310326.8_Silent_p.R263R|NSUN5_ENST00000438747.2_Silent_p.R263R			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	263					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.R263R(2)		breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TGGATGCCAGCCGCTTGGCAT	0.622																																					p.R263R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G789A	7						.						31.0	33.0	32.0					7																	72718372		2203	4300	6503	72356308	SO:0001819	synonymous_variant	55695	exon7			AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.789G>A	7.37:g.72718372C>T			72356308	NM_001168347	B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	ENST00000252594.6	37	CCDS5547.1																																																																																				0.622	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956	
GTF2IRD1	9569	broad.mit.edu	37	7	73933929	73933929	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:73933929G>A	ENST00000265755.3	+	6	1189	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.A298T|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.A266T|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.A266T	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	266					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A266T(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCCCAACCACGCCATCCGAGA	0.697																																					p.A266T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G796A	7						.						56.0	49.0	51.0					7																	73933929		2203	4300	6503	73571865	SO:0001583	missense	9569	exon6			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.796G>A	7.37:g.73933929G>A	ENSP00000265755:p.Ala266Thr		73571865	NM_005685	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	G	7.496	0.651605	0.14516	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.30448	1.54;1.53;1.54;1.53	5.13	-10.3	0.00346	.	0.666459	0.15396	N	0.264577	T	0.09730	0.0239	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.06405	0.0;0.001;0.002;0.002	T	0.18903	-1.0322	10	0.10377	T	0.69	-3.9035	10.9195	0.47156	0.6142:0.1858:0.2:0.0	.	298;266;266;266	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	T	266;298;266;266	ENSP00000265755:A266T;ENSP00000397566:A298T;ENSP00000408477:A266T;ENSP00000418383:A266T	ENSP00000265755:A266T	A	+	1	0	GTF2IRD1	73571865	0.000000	0.05858	0.000000	0.03702	0.929000	0.56500	-1.324000	0.02690	-2.716000	0.00391	-0.258000	0.10820	GCC		0.697	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328	
GTF2IRD2	84163	broad.mit.edu	37	7	74212435	74212435	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:74212435C>T	ENST00000405086.2	-	16	1605	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K	GTF2IRD2_ENST00000451013.2_Silent_p.K19K	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K472K(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						ggtcataatgcttgctgtgat	0.423																																					p.K472K	NSCLC(40;560 1096 7501 40315 49546)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1416A	7						.						214.0	190.0	198.0					7																	74212435		2203	4300	6503	73850371	SO:0001819	synonymous_variant	84163	exon16			BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"""transcription factor GTF2IRD2"""	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.1416G>A	7.37:g.74212435C>T			73850371	NM_173537	A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	ENST00000405086.2	37	CCDS5576.1																																																																																				0.423	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537	
FZD1	8321	broad.mit.edu	37	7	90895546	90895546	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:90895546G>A	ENST00000287934.2	+	1	1764	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	451					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A451T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TCACCTGGCCGCCTGGGCTGT	0.622																																					p.A451T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1351A	7						.						85.0	82.0	83.0					7																	90895546		2203	4300	6503	90733482	SO:0001583	missense	8321	exon1			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1351G>A	7.37:g.90895546G>A	ENSP00000287934:p.Ala451Thr		90733482	NM_003505	A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483778	0.84854	.	.	ENSG00000157240	ENST00000287934	D	0.85861	-2.04	4.52	4.52	0.55395	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000006	D	0.92103	0.7497	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.67900	0.954	D	0.93218	0.6606	10	0.66056	D	0.02	.	17.4373	0.87555	0.0:0.0:1.0:0.0	.	451	Q9UP38	FZD1_HUMAN	T	451	ENSP00000287934:A451T	ENSP00000287934:A451T	A	+	1	0	FZD1	90733482	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.657000	0.98554	2.352000	0.79861	0.462000	0.41574	GCC		0.622	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505	
AKAP9	10142	broad.mit.edu	37	7	91707148	91707148	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:91707148A>G	ENST00000359028.2	+	31	7165	c.6940A>G	c.(6940-6942)Acg>Gcg	p.T2314A	AKAP9_ENST00000358100.2_Missense_Mutation_p.T2314A|AKAP9_ENST00000356239.3_Missense_Mutation_p.T2302A			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2314	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.T2302A(1)|p.T2314A(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)			TGAACAAGTTACGAAACTCCA	0.313			T	BRAF	papillary thyroid																																p.T2294A			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A6880G	7						.						72.0	71.0	71.0					7																	91707148		2203	4300	6503	91545084	SO:0001583	missense	10142	exon30			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.6940A>G	7.37:g.91707148A>G	ENSP00000351922:p.Thr2314Ala		91545084	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	A	1.504	-0.551204	0.03996	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03413	4.03;4.03;4.02;3.94	5.53	-0.74	0.11115	.	1.447210	0.04714	N	0.418175	T	0.01976	0.0062	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.45145	-0.9281	10	0.08837	T	0.75	.	7.1213	0.25446	0.3284:0.0:0.5274:0.1441	.	2306;2314;2302;2294	Q99996-6;Q99996;Q99996-2;Q99996-3	.;AKAP9_HUMAN;.;.	A	2302;2314;2314;2306;148	ENSP00000348573:T2302A;ENSP00000351922:T2314A;ENSP00000350813:T2314A;ENSP00000378042:T148A	ENSP00000348573:T2302A	T	+	1	0	AKAP9	91545084	0.001000	0.12720	0.080000	0.20451	0.018000	0.09664	0.043000	0.13971	-0.063000	0.13065	-0.462000	0.05337	ACG		0.313	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
DLX5	1749	broad.mit.edu	37	7	96653798	96653798	+	Silent	SNP	G	G	A	rs370973096		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:96653798G>A	ENST00000222598.4	-	1	611	c.138C>T	c.(136-138)gaC>gaT	p.D46D	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Silent_p.D46D	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	46					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.D46D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGCTGTAGTAGTCAGAATCGG	0.587																																					p.D46D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C138T	7						.						51.0	56.0	54.0					7																	96653798		2203	4300	6503	96491734	SO:0001819	synonymous_variant	1749	exon1				CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.138C>T	7.37:g.96653798G>A			96491734	NM_005221	B7Z4P3|Q9UPL1	Silent	SNP	ENST00000222598.4	37	CCDS5647.1																																																																																				0.587	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2		
TRRAP	8295	broad.mit.edu	37	7	98490132	98490132	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:98490132T>C	ENST00000359863.4	+	5	556	c.347T>C	c.(346-348)gTg>gCg	p.V116A	TRRAP_ENST00000355540.3_Missense_Mutation_p.V116A|TRRAP_ENST00000446306.3_Missense_Mutation_p.V116A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	116					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.V116A(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)			GTTTTGTCTGTGATGTTTCGC	0.338																																					p.V116A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T347C	7						.						110.0	111.0	111.0					7																	98490132		2203	4300	6503	98328068	SO:0001583	missense	8295	exon5			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.347T>C	7.37:g.98490132T>C	ENSP00000352925:p.Val116Ala		98328068	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.749041	0.69533	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.63580	3.55;-0.05	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.50394	0.1613	N	0.20986	0.625	0.80722	D	1	P;B	0.35872	0.525;0.39	B;B	0.35353	0.201;0.099	T	0.50841	-0.8780	10	0.36615	T	0.2	.	16.4383	0.83889	0.0:0.0:0.0:1.0	.	116;116	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	A	116	ENSP00000352925:V116A;ENSP00000347733:V116A	ENSP00000347733:V116A	V	+	2	0	TRRAP	98328068	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.958000	0.87877	2.287000	0.76781	0.482000	0.46254	GTG		0.338	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
TRRAP	8295	broad.mit.edu	37	7	98533291	98533291	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:98533291G>A	ENST00000359863.4	+	28	4313	c.4104G>A	c.(4102-4104)gcG>gcA	p.A1368A	TRRAP_ENST00000355540.3_Silent_p.A1368A|TRRAP_ENST00000446306.3_Silent_p.A1367A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1368					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.A1368A(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)			TACGAATTGCGGCATTAAGTA	0.393																																					p.A1368A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4104A	7						.						62.0	57.0	59.0					7																	98533291		2203	4300	6503	98371227	SO:0001819	synonymous_variant	8295	exon28			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.4104G>A	7.37:g.98533291G>A			98371227	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	4.225	0.040625	0.08196	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.17	-0.455	0.12193	.	.	.	.	.	T	0.39708	0.1088	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21348	-1.0248	4	.	.	.	.	1.0201	0.01516	0.4513:0.0995:0.1776:0.2716	.	.	.	.	Q	1083	.	.	R	+	2	0	TRRAP	98371227	0.040000	0.19996	0.977000	0.42913	0.385000	0.30292	-0.577000	0.05847	-0.279000	0.09167	-2.272000	0.00274	CGG		0.393	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
ZKSCAN5	23660	broad.mit.edu	37	7	99129114	99129114	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:99129114C>A	ENST00000394170.2	+	7	2013	c.1762C>A	c.(1762-1764)Caa>Aaa	p.Q588K	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q588K|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q588K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	588					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q588K(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGCTACAACCAACGCGTGCA	0.493																																					p.Q588K												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.C1762A	7						.						99.0	93.0	95.0					7																	99129114		2203	4300	6503	98967050	SO:0001583	missense	23660	exon7			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1762C>A	7.37:g.99129114C>A	ENSP00000377725:p.Gln588Lys		98967050	NM_145102	A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600986	0.46423	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.35421	1.31;1.31;1.31	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000064	T	0.44540	0.1298	L	0.39898	1.24	0.21220	N	0.999758	D;D	0.71674	0.993;0.998	P;P	0.55824	0.711;0.785	T	0.27226	-1.0080	10	0.30854	T	0.27	.	16.6795	0.85288	0.0:1.0:0.0:0.0	.	588;588	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	K	588	ENSP00000322872:Q588K;ENSP00000392104:Q588K;ENSP00000377725:Q588K	ENSP00000322872:Q588K	Q	+	1	0	ZKSCAN5	98967050	0.000000	0.05858	0.729000	0.30791	0.870000	0.49936	-0.339000	0.07832	2.890000	0.99128	0.585000	0.79938	CAA		0.493	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569	
ZSCAN21	7589	broad.mit.edu	37	7	99661734	99661734	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:99661734G>A	ENST00000292450.4	+	4	1080	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	ZSCAN21_ENST00000543588.1_Silent_p.T271T|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Silent_p.T271T|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	306					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)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V306M(1)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAAACCTTACGTGTGCACCAA	0.478																																					p.V306M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G916A	7						.						72.0	70.0	71.0					7																	99661734		2203	4300	6503	99499670	SO:0001583	missense	7589	exon4			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.916G>A	7.37:g.99661734G>A	ENSP00000292450:p.Val306Met		99499670	NM_145914	A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103387	0.37145	.	.	ENSG00000166529	ENST00000292450;ENST00000379635	T	0.34472	1.36	4.08	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.227404	0.23123	N	0.051667	T	0.35480	0.0933	L	0.33753	1.03	0.09310	N	1	D	0.60575	0.988	P	0.53224	0.721	T	0.10753	-1.0616	10	0.56958	D	0.05	.	8.8278	0.35065	0.1675:0.0:0.8325:0.0	.	306	Q9Y5A6	ZSC21_HUMAN	M	306;281	ENSP00000292450:V306M	ENSP00000292450:V306M	V	+	1	0	ZSCAN21	99499670	0.000000	0.05858	0.154000	0.22540	0.887000	0.51463	-0.481000	0.06552	0.638000	0.30545	0.655000	0.94253	GTG		0.478	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914	
PLOD3	8985	broad.mit.edu	37	7	100855927	100855927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:100855927delG	ENST00000223127.3	-	9	1287	c.889delC	c.(889-891)cggfs	p.R297fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	297					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.R297fs*61(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGAAACACCCGGGGGGGAGGC	0.642																																					p.R297fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.889delC	7						.						28.0	35.0	33.0					7																	100855927		2202	4297	6499	100642647	SO:0001589	frameshift_variant	8985	exon9			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.889delC	7.37:g.100855927delG	ENSP00000223127:p.Arg297fs		100642647	NM_001084	B2R6W6|Q540C3	Frame_Shift_Del	DEL	ENST00000223127.3	37	CCDS5715.1																																																																																				0.642	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1		
CUX1	1523	broad.mit.edu	37	7	101845304	101845304	+	Frame_Shift_Del	DEL	C	C	-	rs137933356		TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:101845304delC	ENST00000292535.7	+	18	2765	c.2727delC	c.(2725-2727)agcfs	p.S909fs	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000546411.2_Frame_Shift_Del_p.S807fs|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Frame_Shift_Del_p.S853fs|CUX1_ENST00000360264.3_Frame_Shift_Del_p.S920fs|CUX1_ENST00000549414.2_Frame_Shift_Del_p.S887fs|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Frame_Shift_Del_p.S751fs	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	909					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.L911fs*20(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CACAGAACAGCCCCCTGCCAT	0.652																																					p.S909fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2727delC	7						.						120.0	114.0	116.0					7																	101845304		2203	4300	6503	101632024	SO:0001589	frameshift_variant	1523	exon18			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2727delC	7.37:g.101845304delC	ENSP00000292535:p.Ser909fs		101632024	NM_181552	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Frame_Shift_Del	DEL	ENST00000292535.7	37	CCDS5721.1																																																																																				0.652	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	
SMO	6608	broad.mit.edu	37	7	128852004	128852004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:128852004delC	ENST00000249373.3	+	12	2356	c.2076delC	c.(2074-2076)cacfs	p.H692fs	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	692					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P694fs*82(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CTGAGCTTCACCCCCCTGCCC	0.667			Mis		skin basal cell																																p.H692fs			Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2076delC	7						.						11.0	12.0	11.0					7																	128852004		2143	4193	6336	128639240	SO:0001589	frameshift_variant	6608	exon12			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.2076delC	7.37:g.128852004delC	ENSP00000249373:p.His692fs		128639240	NM_005631	A4D1K5	Frame_Shift_Del	DEL	ENST00000249373.3	37	CCDS5811.1																																																																																				0.667	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631	
NUB1	51667	broad.mit.edu	37	7	151065947	151065947	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:151065947G>A	ENST00000355851.4	+	11	1299	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	NUB1_ENST00000568733.1_Missense_Mutation_p.A432T|NUB1_ENST00000413040.2_Missense_Mutation_p.A432T|NUB1_ENST00000566856.1_Missense_Mutation_p.A408T	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	408	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.A408T(1)		endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GGATCATGCGGCCACTCATAT	0.483																																					p.A408T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1222A	7						.						62.0	63.0	63.0					7																	151065947		1943	4136	6079	150696880	SO:0001583	missense	51667	exon11			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1222G>A	7.37:g.151065947G>A	ENSP00000348110:p.Ala408Thr		150696880	NM_016118	O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.426472|4.426472	0.83667|0.83667	.|.	.|.	ENSG00000013374|ENSG00000013374	ENST00000413040;ENST00000355851|ENST00000480714	T|.	0.23950|.	1.88|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);|.	0.053035|.	0.85682|.	D|.	0.000000|.	T|T	0.67420|0.67420	0.2891|0.2891	L|L	0.42008|0.42008	1.315|1.315	0.80722|0.80722	D|D	1|1	P;P|.	0.40398|.	0.716;0.669|.	B;B|.	0.43052|.	0.406;0.376|.	T|T	0.62932|0.62932	-0.6749|-0.6749	10|5	0.34782|.	T|.	0.22|.	-14.2908|-14.2908	18.3594|18.3594	0.90370|0.90370	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	408;408|.	Q9Y5A7;Q9Y5A7-2|.	NUB1_HUMAN;.|.	T|D	408|11	ENSP00000348110:A408T|.	ENSP00000348110:A408T|.	A|G	+|+	1|2	0|0	NUB1|NUB1	150696880|150696880	1.000000|1.000000	0.71417|0.71417	0.919000|0.919000	0.36401|0.36401	0.973000|0.973000	0.67179|0.67179	5.859000|5.859000	0.69539|0.69539	2.564000|2.564000	0.86499|0.86499	0.650000|0.650000	0.86243|0.86243	GCC|GGC		0.483	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118	
PAXIP1	22976	broad.mit.edu	37	7	154760135	154760135	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:154760135delA	ENST00000404141.1	-	7	1930	c.1776delT	c.(1774-1776)tttfs	p.F592fs	PAXIP1_ENST00000397192.1_Frame_Shift_Del_p.F592fs|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	592	Gln-rich.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.F558fs*41(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GATCATGTCCAAAAAGCTGAT	0.512																																					p.F592fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1776delT	7						.						42.0	46.0	45.0					7																	154760135		1927	3628	5555	154391068	SO:0001589	frameshift_variant	22976	exon7			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1776delT	7.37:g.154760135delA	ENSP00000384048:p.Phe592fs		154391068	NM_007349	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Frame_Shift_Del	DEL	ENST00000404141.1	37	CCDS47753.1																																																																																				0.512	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	
CDCA7L	55536	broad.mit.edu	37	7	21942715	21942715	+	Frame_Shift_Del	DEL	G	G	-	rs201829504		TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:21942715delG	ENST00000406877.3	-	9	1494	c.1215delC	c.(1213-1215)cccfs	p.P405fs	CDCA7L_ENST00000465490.1_5'Flank|CDCA7L_ENST00000373934.4_Frame_Shift_Del_p.P359fs|CDCA7L_ENST00000356195.5_Frame_Shift_Del_p.P371fs	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	405					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.C406fs*46(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCCCACGACAGGGGGGACACA	0.517																																					p.P359fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.1077delC	7						.						53.0	49.0	50.0					7																	21942715		2203	4300	6503	21909240	SO:0001589	frameshift_variant	55536	exon8				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.1215delC	7.37:g.21942715delG	ENSP00000383986:p.Pro405fs		21909240	NM_001127371	A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Frame_Shift_Del	DEL	ENST00000406877.3	37	CCDS5374.1																																																																																				0.517	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719	
AC005013.5	0	broad.mit.edu	37	7	28996482	28996482	+	lincRNA	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:28996482delG	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							TCGCAGGGCCGGGGGGTGGCG	0.662																																					p.P394fs												.	.	0			c.1181delC	7						.						24.0	32.0	29.0					7																	28996482		2089	4205	6294	28963007			9865	exon1																															7.37:g.28996482delG			28963007	NM_014817		Frame_Shift_Del	DEL	ENST00000436594.1	37																																																																																					0.662	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3		
SLC29A4	222962	broad.mit.edu	37	7	5330812	5330814	+	In_Frame_Del	DEL	TCC	TCC	-	rs567644235|rs371767928		TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr7:5330812_5330814delTCC	ENST00000396872.3	+	4	520_522	c.359_361delTCC	c.(358-363)gtcctc>gtc	p.L122del	SLC29A4_ENST00000297195.4_In_Frame_Del_p.L122del|SLC29A4_ENST00000406453.3_In_Frame_Del_p.L122del			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	122					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.L122delL(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CTGGCAGCTGTCCTCCTGAACAA	0.635																																					p.120_121del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.359_361del	7						.																																			5297340	SO:0001651	inframe_deletion	222962	exon4			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.359_361delTCC	7.37:g.5330815_5330817delTCC	ENSP00000380081:p.Leu122del		5297338	NM_153247	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	In_Frame_Del	DEL	ENST00000396872.3	37	CCDS5340.1																																																																																				0.635	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247	
ISM1	140862	broad.mit.edu	37	20	13260508	13260508	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:13260508C>T	ENST00000262487.4	+	3	612	c.606C>T	c.(604-606)ggC>ggT	p.G202G	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	202						extracellular region (GO:0005576)		p.G202G(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CAGCCCCAGGCCACCGGACTT	0.517																																					p.G202G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C606T	20						.						41.0	46.0	45.0					20																	13260508		1884	4112	5996	13208508	SO:0001819	synonymous_variant	140862	exon3			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.606C>T	20.37:g.13260508C>T			13208508	NM_080826	Q8WVH9	Silent	SNP	ENST00000262487.4	37	CCDS46579.1																																																																																				0.517	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2		
KIF16B	55614	broad.mit.edu	37	20	16337027	16337027	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:16337027C>T	ENST00000354981.2	-	23	3726	c.3569G>A	c.(3568-3570)cGc>cAc	p.R1190H	KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Missense_Mutation_p.R1190H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1190	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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.R1190H(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						GAGGACGTAGCGTGGGATACT	0.493																																					p.R1190H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3569A	20						.						130.0	104.0	112.0					20																	16337027		2203	4300	6503	16285027	SO:0001583	missense	55614	exon23			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3569G>A	20.37:g.16337027C>T	ENSP00000347076:p.Arg1190His		16285027	NM_024704	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093901	0.94149	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997	T;T	0.30448	1.53;1.53	5.6	5.6	0.85130	Phox homologous domain (4);	.	.	.	.	T	0.53222	0.1783	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50363	-0.8837	9	0.66056	D	0.02	.	19.984	0.97341	0.0:1.0:0.0:0.0	.	1190	Q96L93	KI16B_HUMAN	H	1190;1190;1034	ENSP00000347076:R1190H;ENSP00000347995:R1190H	ENSP00000347076:R1190H	R	-	2	0	KIF16B	16285027	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.109000	0.77062	2.795000	0.96236	0.643000	0.83706	CGC		0.493	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
CFAP61	26074	broad.mit.edu	37	20	20257861	20257861	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:20257861C>T	ENST00000245957.5	+	22	2631	c.2555C>T	c.(2554-2556)aCg>aTg	p.T852M	C20orf26_ENST00000377309.2_Missense_Mutation_p.T208M	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		852								p.T852M(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)		ACCGTGGAGACGCTCTTAAAC	0.512																																					p.T852M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2555T	20						.						45.0	53.0	50.0					20																	20257861		2203	4300	6503	20205861	SO:0001583	missense	26074	exon22																														ENST00000245957.5:c.2555C>T	20.37:g.20257861C>T	ENSP00000245957:p.Thr852Met		20205861	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370315	0.42003	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389655;ENST00000245957	T;T	0.37411	1.2;1.2	4.93	1.93	0.25924	.	0.304797	0.34777	N	0.003694	T	0.30293	0.0760	L	0.55834	1.745	0.22266	N	0.999242	D;B	0.54772	0.968;0.291	B;B	0.40677	0.337;0.049	T	0.16217	-1.0410	10	0.45353	T	0.12	.	9.8582	0.41098	0.0:0.7751:0.0:0.2249	.	832;852	F8W6K4;Q8NHU2	.;CT026_HUMAN	M	792;208;832;852	ENSP00000366524:T208M;ENSP00000245957:T852M	ENSP00000245957:T852M	T	+	2	0	C20orf26	20205861	0.562000	0.26586	0.001000	0.08648	0.016000	0.09150	1.754000	0.38369	0.145000	0.18977	0.460000	0.39030	ACG		0.512	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		
SYNDIG1	79953	broad.mit.edu	37	20	24565507	24565507	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:24565507G>A	ENST00000376862.3	+	3	1129	c.496G>A	c.(496-498)Gac>Aac	p.D166N		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	166					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.D166N(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTACTCAAGCGACACAGAGAG	0.567																																					p.D166N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G496A	20						.						137.0	130.0	132.0					20																	24565507		2203	4300	6503	24513507	SO:0001583	missense	79953	exon3			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.496G>A	20.37:g.24565507G>A	ENSP00000366058:p.Asp166Asn		24513507	NM_024893	Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720442	0.68959	.	.	ENSG00000101463	ENST00000376862	D	0.92545	-3.06	5.1	5.1	0.69264	.	0.149453	0.44285	D	0.000462	D	0.94268	0.8159	M	0.67397	2.05	0.52099	D	0.999948	D	0.76494	0.999	D	0.64144	0.922	D	0.94040	0.7308	10	0.56958	D	0.05	-43.9252	11.1641	0.48533	0.0:0.0:0.8161:0.1839	.	166	Q9H7V2	SYNG1_HUMAN	N	166	ENSP00000366058:D166N	ENSP00000366058:D166N	D	+	1	0	SYNDIG1	24513507	1.000000	0.71417	0.937000	0.37676	0.466000	0.32739	6.506000	0.73712	2.382000	0.81193	0.561000	0.74099	GAC		0.567	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893	
NINL	22981	broad.mit.edu	37	20	25493496	25493496	+	Missense_Mutation	SNP	G	G	A	rs139869636		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:25493496G>A	ENST00000278886.6	-	4	497	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	NINL_ENST00000422516.1_Missense_Mutation_p.R142C	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	142					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.R142C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GACGCTGAGCGCCAGAGGTGA	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20285	0.0		0.0	False		,,,				2504	0.0				p.R142C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C424T	20						.	G	CYS/ARG	2,4404	2.1+/-5.4	0,2,2201	41.0	45.0	44.0		424	3.2	0.0	20	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NINL	NM_025176.4	180	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	142/1383	25493496	3,13003	2203	4300	6503	25441496	SO:0001583	missense	22981	exon4				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.424C>T	20.37:g.25493496G>A	ENSP00000278886:p.Arg142Cys		25441496	NM_025176	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827469	0.50845	4.54E-4	1.16E-4	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.25579	1.79;1.79	5.17	3.16	0.36331	.	0.210963	0.40640	N	0.001052	T	0.41581	0.1165	M	0.71581	2.175	0.09310	N	0.999993	D;D	0.89917	0.999;1.0	P;P	0.61722	0.804;0.893	T	0.20075	-1.0286	10	0.72032	D	0.01	-2.1027	7.2984	0.26405	0.0794:0.0:0.6229:0.2977	.	142;142	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	C	142	ENSP00000278886:R142C;ENSP00000410431:R142C	ENSP00000278886:R142C	R	-	1	0	NINL	25441496	0.004000	0.15560	0.001000	0.08648	0.008000	0.06430	0.962000	0.29280	0.706000	0.31912	0.650000	0.86243	CGC		0.612	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
HCK	3055	broad.mit.edu	37	20	30662502	30662502	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:30662502G>A	ENST00000520553.1	+	5	589	c.343G>A	c.(343-345)Gtt>Att	p.V115I	HCK_ENST00000534862.1_Missense_Mutation_p.V116I|HCK_ENST00000375852.2_Missense_Mutation_p.V136I|HCK_ENST00000518730.1_Missense_Mutation_p.V114I|HCK_ENST00000375862.2_Missense_Mutation_p.V135I|HCK_ENST00000538448.1_Missense_Mutation_p.V115I	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	136	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.V115I(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	TGTCGCCCGCGTTGACTCTCT	0.552																																					p.V115I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G343A	20						.						99.0	95.0	96.0					20																	30662502		2203	4300	6503	30126163	SO:0001583	missense	3055	exon5			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.343G>A	20.37:g.30662502G>A	ENSP00000429848:p.Val115Ile		30126163	NM_001172129	A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917841	0.52546	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	4.98	4.01	0.46588	Src homology-3 domain (3);	0.137326	0.32918	N	0.005493	T	0.10594	0.0259	N	0.04320	-0.23	0.29713	N	0.839261	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.08126	-1.0737	10	0.46703	T	0.11	.	13.034	0.58859	0.0798:0.0:0.9202:0.0	.	114;136	P08631-3;P08631	.;HCK_HUMAN	I	116;115;135;115;114;136	ENSP00000444986:V116I;ENSP00000441169:V115I;ENSP00000365022:V135I;ENSP00000429848:V115I;ENSP00000427757:V114I;ENSP00000365012:V136I	ENSP00000365012:V136I	V	+	1	0	HCK	30126163	0.997000	0.39634	0.832000	0.32986	0.705000	0.40729	4.483000	0.60264	2.584000	0.87258	0.563000	0.77884	GTT		0.552	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1		
TM9SF4	9777	broad.mit.edu	37	20	30729320	30729320	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:30729320C>T	ENST00000398022.2	+	4	485	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	TM9SF4_ENST00000217315.5_Missense_Mutation_p.R67W	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	84						integral component of membrane (GO:0016021)		p.R67W(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGAGGGGACCGGATTGTCAA	0.547																																					p.R84W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C250T	20						.						79.0	77.0	78.0					20																	30729320		2203	4300	6503	30192981	SO:0001583	missense	9777	exon4			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.250C>T	20.37:g.30729320C>T	ENSP00000381104:p.Arg84Trp		30192981	NM_014742	B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	.	27.7	4.851987	0.91355	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.55413	0.52;0.52	5.51	5.51	0.81932	.	0.131624	0.53938	D	0.000051	T	0.81621	0.4861	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87410	0.2375	10	0.87932	D	0	-18.6304	15.0704	0.72030	0.1425:0.8575:0.0:0.0	.	84	Q92544	TM9S4_HUMAN	W	84;67	ENSP00000381104:R84W;ENSP00000217315:R67W	ENSP00000217315:R67W	R	+	1	2	TM9SF4	30192981	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.567000	0.67378	2.586000	0.87340	0.563000	0.77884	CGG		0.547	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742	
NOL4L	140688	broad.mit.edu	37	20	31040747	31040747	+	Silent	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:31040747A>G	ENST00000359676.5	-	6	970	c.828T>C	c.(826-828)tgT>tgC	p.C276C	RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		276						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.C276C(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						TCTCGCTCTCACAGGCAGCTG	0.632																																					p.C276C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T828C	20						.						88.0	86.0	86.0					20																	31040747		2203	4300	6503	30504408	SO:0001819	synonymous_variant	140688	exon6																														ENST00000359676.5:c.828T>C	20.37:g.31040747A>G			30504408	NM_080616	Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Silent	SNP	ENST00000359676.5	37	CCDS13202.1																																																																																				0.632	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2		
DNMT3B	1789	broad.mit.edu	37	20	31367940	31367940	+	Intron	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:31367940C>A	ENST00000328111.2	+	2	315				DNMT3B_ENST00000201963.3_Missense_Mutation_p.P7T|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000353855.2_Intron|DNMT3B_ENST00000443239.3_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta						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.P7T(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						AAGTCCTGAGCCTCCAAGCTT	0.632																																					p.P7T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C19A	20						.						20.0	22.0	21.0					20																	31367940		2200	4299	6499	30831601	SO:0001627	intron_variant	1789	exon1				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.-6-184C>A	20.37:g.31367940C>A			30831601	NM_175850	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527560	0.27299	.	.	ENSG00000088305	ENST00000201963	D	0.97114	-4.25	4.33	4.33	0.51752	.	.	.	.	.	D	0.97888	0.9306	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97180	0.9850	8	0.39692	T	0.17	.	12.5161	0.56034	0.0:1.0:0.0:0.0	.	7	Q9UBC3-6	.	T	7	ENSP00000201963:P7T	ENSP00000201963:P7T	P	+	1	0	DNMT3B	30831601	0.284000	0.24287	1.000000	0.80357	0.883000	0.51084	1.511000	0.35801	2.415000	0.81967	0.561000	0.74099	CCT		0.632	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	
MAPRE1	22919	broad.mit.edu	37	20	31413838	31413838	+	Silent	SNP	C	C	T	rs565248642		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:31413838C>T	ENST00000375571.5	+	2	244	c.105C>T	c.(103-105)atC>atT	p.I35I		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	35	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.I35I(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						TGACAAAGATCGAACAGTTGT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		15424	0.0		0.0	False		,,,				2504	0.001				p.I35I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C105T	20						.						162.0	141.0	148.0					20																	31413838		2203	4300	6503	30877499	SO:0001819	synonymous_variant	22919	exon2			U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.105C>T	20.37:g.31413838C>T			30877499	NM_012325	B2R6I7|E1P5M8|Q3KQS8	Silent	SNP	ENST00000375571.5	37	CCDS13208.1																																																																																				0.448	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325	
EPB41L1	2036	broad.mit.edu	37	20	34810266	34810266	+	Missense_Mutation	SNP	G	G	A	rs371978327		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:34810266G>A	ENST00000338074.2	+	21	2748	c.2587G>A	c.(2587-2589)Gta>Ata	p.V863I	EPB41L1_ENST00000202028.5_Missense_Mutation_p.V761I|EPB41L1_ENST00000373941.1_Missense_Mutation_p.V862I|EPB41L1_ENST00000373950.2_Missense_Mutation_p.V754I|EPB41L1_ENST00000441639.1_Missense_Mutation_p.V761I|EPB41L1_ENST00000373946.3_Missense_Mutation_p.V683I	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	863	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.V863I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CAAAGCTGTCGTATACAGAGA	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		19242	0.0		0.001	False		,,,				2504	0.0				p.V863I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2587A	20						.	G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	115.0	107.0	110.0		2587,2281	4.6	1.0	20		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EPB41L1	NM_012156.2,NM_177996.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	863/882,761/780	34810266	1,13005	2203	4300	6503	34273680	SO:0001583	missense	2036	exon21			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2587G>A	20.37:g.34810266G>A	ENSP00000337168:p.Val863Ile		34273680	NM_012156	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416844	0.83449	0.0	1.16E-4	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	4.61	4.61	0.57282	Band 4.1, C-terminal (1);	.	.	.	.	D	0.87962	0.6310	L	0.42686	1.345	0.53688	D	0.999972	D;D;D;D;D	0.89917	1.0;0.998;0.999;0.994;0.999	D;D;D;D;D	0.85130	0.997;0.972;0.993;0.972;0.991	D	0.89351	0.3661	9	0.87932	D	0	.	16.6051	0.84826	0.0:0.0:1.0:0.0	.	863;683;754;754;761	Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	E41L1_HUMAN;.;.;.;.	I	761;754;754;761;683;863;862	ENSP00000202028:V761I;ENSP00000363061:V754I;ENSP00000399214:V761I;ENSP00000363057:V683I;ENSP00000337168:V863I;ENSP00000363052:V862I	ENSP00000202028:V761I	V	+	1	0	EPB41L1	34273680	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.263000	0.95617	2.401000	0.81631	0.462000	0.41574	GTA		0.542	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156	
DLGAP4	22839	broad.mit.edu	37	20	35125141	35125141	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:35125141C>T	ENST00000373907.2	+	7	1881	c.1682C>T	c.(1681-1683)cCg>cTg	p.P561L	DLGAP4_ENST00000340491.4_Missense_Mutation_p.P22L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P561L|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P561L|DLGAP4_ENST00000373913.3_Missense_Mutation_p.P561L|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	561					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.P561L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAGAAGACCCCGCCACCGGTC	0.587																																					p.P22L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C65T	20						.						74.0	74.0	74.0					20																	35125141		2203	4300	6503	34558555	SO:0001583	missense	22839	exon2			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1682C>T	20.37:g.35125141C>T	ENSP00000363014:p.Pro561Leu		34558555	NM_183006	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37		.	.	.	.	.	.	.	.	.	.	C	28.5	4.923129	0.92319	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.28895	1.59;1.59;2.23;2.23;1.59	5.49	5.49	0.81192	.	0.044692	0.85682	N	0.000000	T	0.61502	0.2352	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.979;1.0	T	0.65825	-0.6074	10	0.87932	D	0	.	18.7174	0.91680	0.0:1.0:0.0:0.0	.	22;561	Q9Y2H0-3;Q9Y2H0-1	.;.	L	561;561;561;561;22	ENSP00000363023:P561L;ENSP00000384954:P561L;ENSP00000363014:P561L;ENSP00000341633:P561L;ENSP00000345700:P22L	ENSP00000341633:P561L	P	+	2	0	DLGAP4	34558555	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.776000	0.85560	2.735000	0.93741	0.655000	0.94253	CCG		0.587	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902	
MYL9	10398	broad.mit.edu	37	20	35173327	35173327	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:35173327C>T	ENST00000279022.2	+	2	144	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|MYL9_ENST00000346786.2_Missense_Mutation_p.R14W	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	14					axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.R14W(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CACCAAGAAGCGGCCACAGCG	0.577																																					p.R14W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C40T	20						.						98.0	83.0	88.0					20																	35173327		2203	4300	6503	34606741	SO:0001583	missense	10398	exon2			J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.40C>T	20.37:g.35173327C>T	ENSP00000279022:p.Arg14Trp		34606741	NM_006097	E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Missense_Mutation	SNP	ENST00000279022.2	37	CCDS13276.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741288	0.49151	.	.	ENSG00000101335	ENST00000279022;ENST00000346786	T;T	0.76186	-1.0;-0.69	4.67	-0.00696	0.14011	.	0.000000	0.85682	D	0.000000	T	0.78742	0.4331	M	0.91818	3.245	0.80722	D	1	P;D	0.52996	0.857;0.957	B;P	0.46026	0.037;0.501	T	0.79303	-0.1859	10	0.87932	D	0	.	9.4712	0.38844	0.442:0.434:0.124:0.0	.	14;14	Q9BUF9;P24844	.;MYL9_HUMAN	W	14	ENSP00000279022:R14W;ENSP00000217313:R14W	ENSP00000279022:R14W	R	+	1	2	MYL9	34606741	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	2.596000	0.46205	-0.177000	0.10690	-0.976000	0.02587	CGG		0.577	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097	
SIGLEC1	6614	broad.mit.edu	37	20	3677788	3677788	+	Missense_Mutation	SNP	C	C	T	rs564843501		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:3677788C>T	ENST00000344754.4	-	9	2323	c.2324G>A	c.(2323-2325)cGc>cAc	p.R775H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R775H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	775	Ig-like C2-type 7.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R775H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGTCAGGATGCGGCAGGCGTA	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14324	0.0		0.0	False		,,,				2504	0.0				p.R775H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2324A	20						.						62.0	61.0	61.0					20																	3677788		2203	4300	6503	3625788	SO:0001583	missense	6614	exon9			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2324G>A	20.37:g.3677788C>T	ENSP00000341141:p.Arg775His		3625788	NM_023068	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	6.241	0.412619	0.11812	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.14766	2.48;2.48	5.31	0.794	0.18638	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.831670	0.10192	N	0.704543	T	0.17577	0.0422	M	0.79475	2.455	0.09310	N	0.999992	B;B	0.14805	0.011;0.003	B;B	0.12156	0.007;0.003	T	0.24368	-1.0162	10	0.46703	T	0.11	.	7.7175	0.28712	0.0:0.6184:0.0:0.3816	.	775;775	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	H	775	ENSP00000341141:R775H;ENSP00000202578:R775H	ENSP00000202578:R775H	R	-	2	0	SIGLEC1	3625788	0.000000	0.05858	0.234000	0.24042	0.025000	0.11179	-1.231000	0.02939	0.298000	0.22638	-0.258000	0.10820	CGC		0.642	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	
SIGLEC1	6614	broad.mit.edu	37	20	3684491	3684491	+	Silent	SNP	G	G	A	rs373178169		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:3684491G>A	ENST00000344754.4	-	4	953	c.954C>T	c.(952-954)ccC>ccT	p.P318P	SIGLEC1_ENST00000202578.4_Silent_p.P318P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	318	Ig-like C2-type 2.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.P318P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGAGGCTGATGGGGGGTGAGA	0.617																																					p.P318P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C954T	20						.	G		0,4406		0,0,2203	51.0	43.0	46.0		954	-10.5	0.0	20		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SIGLEC1	NM_023068.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		318/1710	3684491	1,13005	2203	4300	6503	3632491	SO:0001819	synonymous_variant	6614	exon4			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.954C>T	20.37:g.3684491G>A			3632491	NM_023068	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	CCDS13060.1																																																																																				0.617	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	
BLCAP	10904	broad.mit.edu	37	20	36147459	36147459	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:36147459G>A	ENST00000373537.2	-	2	432	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	NNAT_ENST00000062104.2_5'Flank|BLCAP_ENST00000414542.2_Missense_Mutation_p.R40W|BLCAP_ENST00000397137.1_Missense_Mutation_p.R40W|NNAT_ENST00000346199.2_5'Flank|BLCAP_ENST00000397131.1_Missense_Mutation_p.R40W|BLCAP_ENST00000397134.1_Missense_Mutation_p.R40W|BLCAP_ENST00000397135.1_Missense_Mutation_p.R40W	NM_001167823.1|NM_006698.3	NP_001161295.1|NP_006689.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	40					apoptotic nuclear changes (GO:0030262)|cell cycle (GO:0007049)	integral component of membrane (GO:0016021)		p.R40W(1)		breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				CAAGGCTTCCGTTCCAGGAGG	0.567																																					p.R40W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C118T	20						.						59.0	58.0	58.0					20																	36147459		2203	4300	6503	35580873	SO:0001583	missense	10904	exon2			AF053470	CCDS13295.1	20q11.23	2006-01-29			ENSG00000166619	ENSG00000166619			1055	protein-coding gene	gene with protein product		613110				10197429	Standard	NM_006698		Approved	BC10	uc021wdf.1	P62952	OTTHUMG00000032419	ENST00000373537.2:c.118C>T	20.37:g.36147459G>A	ENSP00000362637:p.Arg40Trp		35580873	NM_001167821	A2A2K7|O60629|Q9D3B5	Missense_Mutation	SNP	ENST00000373537.2	37	CCDS13295.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131962	0.56828	.	.	ENSG00000166619	ENST00000373537;ENST00000397137;ENST00000414542;ENST00000397135;ENST00000397134;ENST00000397131;ENST00000432507;ENST00000445723;ENST00000414080	.	.	.	5.16	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.76912	0.4054	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79227	-0.1890	8	0.87932	D	0	-11.6846	10.4953	0.44775	0.0:0.0:0.6465:0.3535	.	40	P62952	BLCAP_HUMAN	W	40	.	ENSP00000362637:R40W	R	-	1	2	BLCAP	35580873	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	3.852000	0.55934	1.361000	0.45981	0.585000	0.79938	CGG		0.567	BLCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079113.2	NM_006698	
FAM83D	81610	broad.mit.edu	37	20	37581028	37581028	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:37581028G>A	ENST00000217429.4	+	4	1754	c.1713G>A	c.(1711-1713)cgG>cgA	p.R571R		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	541					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R571R(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TCAGGTCCCGGCTCAACCACA	0.493																																					p.R571R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1713A	20						.						83.0	88.0	87.0					20																	37581028		1970	4156	6126	37014442	SO:0001819	synonymous_variant	81610	exon4			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1713G>A	20.37:g.37581028G>A			37014442	NM_030919	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Silent	SNP	ENST00000217429.4	37	CCDS42872.1																																																																																				0.493	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1		
LPIN3	64900	broad.mit.edu	37	20	39974622	39974622	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:39974622C>T	ENST00000373257.3	+	2	270	c.179C>T	c.(178-180)tCg>tTg	p.S60L		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	60	N-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.S60L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GTCCTGCGGTCGCGGGAGAAG	0.637																																					p.S60L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C179T	20						.						66.0	59.0	61.0					20																	39974622		2203	4300	6503	39408036	SO:0001583	missense	64900	exon2			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.179C>T	20.37:g.39974622C>T	ENSP00000362354:p.Ser60Leu		39408036	NM_022896	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934822	0.92458	.	.	ENSG00000132793	ENST00000373257	T	0.77358	-1.09	5.59	5.59	0.84812	Lipin, N-terminal (1);	0.140991	0.48286	D	0.000187	D	0.90198	0.6936	M	0.90542	3.125	0.53688	D	0.999973	D;D	0.89917	0.998;1.0	D;D	0.67231	0.95;0.934	D	0.91462	0.5190	9	.	.	.	-9.6255	19.1895	0.93658	0.0:1.0:0.0:0.0	.	60;60	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	L	60	ENSP00000362354:S60L	.	S	+	2	0	LPIN3	39408036	1.000000	0.71417	0.942000	0.38095	0.460000	0.32559	7.455000	0.80726	2.624000	0.88883	0.511000	0.50034	TCG		0.637	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896	
CHD6	84181	broad.mit.edu	37	20	40033809	40033809	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:40033809G>A	ENST00000373233.3	-	37	7749	c.7572C>T	c.(7570-7572)ggC>ggT	p.G2524G	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2524					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.G2524G(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAGCAGCCATGCCTGGCAGCA	0.592																																					p.G2524G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7572T	20						.						79.0	69.0	72.0					20																	40033809		2203	4300	6503	39467223	SO:0001819	synonymous_variant	84181	exon37			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7572C>T	20.37:g.40033809G>A			39467223	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1																																																																																				0.592	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
CHD6	84181	broad.mit.edu	37	20	40081514	40081514	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:40081514G>A	ENST00000373233.3	-	21	3366	c.3189C>T	c.(3187-3189)gaC>gaT	p.D1063D	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1063					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.D1063D(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCATGAGCTCGTCTTCCTCAA	0.522																																					p.D1063D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3189T	20						.						149.0	117.0	128.0					20																	40081514		2203	4300	6503	39514928	SO:0001819	synonymous_variant	84181	exon21			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3189C>T	20.37:g.40081514G>A			39514928	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1																																																																																				0.522	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
SGK2	10110	broad.mit.edu	37	20	42196324	42196324	+	Missense_Mutation	SNP	G	G	A	rs200530019		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:42196324G>A	ENST00000341458.4	+	3	505	c.286G>A	c.(286-288)Gac>Aac	p.D96N	SGK2_ENST00000373100.1_Missense_Mutation_p.D36N|SGK2_ENST00000423407.3_Missense_Mutation_p.D36N|SGK2_ENST00000373077.1_Missense_Mutation_p.D36N|SGK2_ENST00000373092.3_Missense_Mutation_p.D36N|SGK2_ENST00000426287.1_Missense_Mutation_p.D62N	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	96	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.D96N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACGGACTTCGACTTCCTCAA	0.552																																					p.D36N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G106A	20						.	G	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	72.0	69.0	70.0		106,286,106	4.9	1.0	20		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SGK2	NM_001199264.1,NM_016276.3,NM_170693.2	23,23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	36/368,96/428,36/368	42196324	1,13005	2203	4300	6503	41629738	SO:0001583	missense	10110	exon4			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.286G>A	20.37:g.42196324G>A	ENSP00000340608:p.Asp96Asn		41629738	NM_170693	Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646979	0.67358	0.0	1.16E-4	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	N	0.05554	-0.025	0.80722	D	1	B;B;B	0.29671	0.06;0.254;0.011	B;B;B	0.21546	0.033;0.035;0.005	T	0.49762	-0.8905	10	0.66056	D	0.02	.	17.3058	0.87194	0.0:0.0:1.0:0.0	.	62;96;36	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	N	36;36;36;36;36;96;62	ENSP00000362192:D36N;ENSP00000362184:D36N;ENSP00000362168:D36N;ENSP00000396222:D36N;ENSP00000392795:D36N;ENSP00000340608:D96N;ENSP00000412214:D62N	ENSP00000340608:D96N	D	+	1	0	SGK2	41629738	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.503000	0.66962	2.448000	0.82819	0.655000	0.94253	GAC		0.552	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1		
JPH2	57158	broad.mit.edu	37	20	42788479	42788479	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:42788479G>A	ENST00000372980.3	-	2	1820	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	316					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.G316G(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCAGCCACTCGCCCTCGTAGC	0.662																																					p.G316G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C948T	20						.						58.0	49.0	52.0					20																	42788479		2203	4300	6503	42221893	SO:0001819	synonymous_variant	57158	exon2			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.948C>T	20.37:g.42788479G>A			42221893	NM_020433	E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	CCDS13325.1																																																																																				0.662	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1		
HNF4A	3172	broad.mit.edu	37	20	43034730	43034730	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:43034730G>A	ENST00000316099.4	+	2	237	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000443598.2_Missense_Mutation_p.A50T|HNF4A_ENST00000457232.1_Missense_Mutation_p.A28T|HNF4A_ENST00000415691.2_Missense_Mutation_p.A50T|HNF4A_ENST00000609795.1_Missense_Mutation_p.A28T|HNF4A_ENST00000316673.4_Missense_Mutation_p.A28T	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	50					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A28T(1)|p.A50T(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAACCTCAACGCGCCCAACAG	0.622																																					p.A28T	Colon(79;2 1269 8820 14841 52347)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G82A	20						.						140.0	139.0	139.0					20																	43034730		2203	4300	6503	42468144	SO:0001583	missense	3172	exon2			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.148G>A	20.37:g.43034730G>A	ENSP00000312987:p.Ala50Thr		42468144	NM_001030003	A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	g	12.01	1.809641	0.31961	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.92699	-2.99;-2.98;-3.01;-3.09;-3.0	5.17	2.07	0.26955	.	1.112910	0.06695	N	0.770408	D	0.83018	0.5163	N	0.16903	0.455	0.29303	N	0.868584	B;B;B;B;B;B;B	0.16396	0.003;0.007;0.007;0.009;0.003;0.012;0.017	B;B;B;B;B;B;B	0.12837	0.002;0.002;0.002;0.005;0.004;0.008;0.006	T	0.69756	-0.5059	10	0.20046	T	0.44	.	4.2891	0.10869	0.2376:0.0:0.4855:0.277	.	43;50;50;50;28;28;28	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	T	28;28;50;50;80;50	ENSP00000315180:A28T;ENSP00000396216:A28T;ENSP00000312987:A50T;ENSP00000410911:A50T;ENSP00000412111:A50T	ENSP00000312987:A50T	A	+	1	0	HNF4A	42468144	0.747000	0.28283	0.773000	0.31616	0.993000	0.82548	1.422000	0.34826	0.170000	0.19704	0.645000	0.84053	GCG		0.622	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3		
HNF4A	3172	broad.mit.edu	37	20	43058195	43058195	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:43058195G>T	ENST00000316099.4	+	10	1404	c.1315G>T	c.(1315-1317)Ggt>Tgt	p.G439C	HNF4A_ENST00000457232.1_Missense_Mutation_p.G407C|HNF4A_ENST00000415691.2_Missense_Mutation_p.G429C|HNF4A_ENST00000316673.4_Missense_Mutation_p.G417C	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	439					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G439C(1)|p.G417C(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTCACCGCCAGGTGGCTCAGG	0.607																																					p.G407C	Colon(79;2 1269 8820 14841 52347)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1219T	20						.						87.0	94.0	92.0					20																	43058195		2203	4300	6503	42491609	SO:0001583	missense	3172	exon10			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1315G>T	20.37:g.43058195G>T	ENSP00000312987:p.Gly439Cys		42491609	NM_001030003	A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870816	0.51695	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000338692;ENST00000415691	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.23	4.27	0.50696	.	0.826695	0.10452	N	0.673001	T	0.56292	0.1975	N	0.08118	0	0.38281	D	0.942439	P;P;B;P;P	0.46020	0.871;0.726;0.422;0.726;0.82	B;B;B;B;B	0.43331	0.237;0.156;0.219;0.319;0.416	T	0.58668	-0.7596	10	0.49607	T	0.09	.	13.0226	0.58796	0.0786:0.0:0.9214:0.0	.	432;439;429;417;407	Q5QPB7;P41235;F1D8S2;F1D8T0;P41235-6	.;HNF4A_HUMAN;.;.;.	C	417;407;439;469;429	ENSP00000315180:G417C;ENSP00000396216:G407C;ENSP00000312987:G439C;ENSP00000412111:G429C	ENSP00000312987:G439C	G	+	1	0	HNF4A	42491609	0.999000	0.42202	0.999000	0.59377	0.943000	0.58893	2.991000	0.49409	1.408000	0.46895	0.561000	0.74099	GGT		0.607	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3		
PABPC1L	80336	broad.mit.edu	37	20	43559194	43559194	+	Missense_Mutation	SNP	C	C	T	rs199499305		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:43559194C>T	ENST00000217073.2	+	8	1066	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	PABPC1L_ENST00000217074.4_3'UTR|PABPC1L_ENST00000372819.1_5'Flank|PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000372824.1_5'Flank|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000255136.3_Missense_Mutation_p.R356C			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	356	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R356C(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GATGAACGGGCGCATCGTGGG	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17933	0.0		0.0	False		,,,				2504	0.0				p.R356C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1066T	20						.	C	CYS/ARG	0,3136		0,0,1568	177.0	170.0	172.0		1066	1.5	1.0	20		172	1,7163		0,1,3581	no	missense	PABPC1L	NM_001124756.1	180	0,1,5149	TT,TC,CC		0.014,0.0,0.0097	possibly-damaging	356/615	43559194	1,10299	1568	3582	5150	42992608	SO:0001583	missense	80336	exon8			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1066C>T	20.37:g.43559194C>T	ENSP00000217073:p.Arg356Cys		42992608	NM_001124756	Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	CCDS42878.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.68	3.448583	0.63178	0.0	1.4E-4	ENSG00000101104	ENST00000255136;ENST00000217073	T;T	0.17691	2.26;2.26	5.63	1.54	0.23209	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.148667	0.64402	N	0.000020	T	0.16385	0.0394	L	0.46947	1.48	0.80722	D	1	P	0.47191	0.891	P	0.46510	0.519	T	0.02713	-1.1120	10	0.87932	D	0	.	4.2747	0.10802	0.2364:0.4887:0.0:0.2749	.	356	Q4VXU2	PAP1L_HUMAN	C	356	ENSP00000255136:R356C;ENSP00000217073:R356C	ENSP00000217073:R356C	R	+	1	0	PABPC1L	42992608	1.000000	0.71417	0.973000	0.42090	0.764000	0.43329	1.188000	0.32102	0.334000	0.23590	0.655000	0.94253	CGC		0.577	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2		
EPPIN	57119	broad.mit.edu	37	20	44166705	44166705	+	IGR	SNP	G	G	A	rs374760516		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:44166705G>A	ENST00000354280.4	-	0	1987				EPPIN-WFDC6_ENST00000504988.1_Silent_p.C140C|EPPIN_ENST00000555685.1_Silent_p.C140C|WFDC6_ENST00000600168.1_Silent_p.C40C|WFDC6_ENST00000372670.3_Silent_p.C40C	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor						defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.C40C(2)									CTTCCACTTCGCATTCCACTT	0.498																																					p.C40C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C120T	20						.						211.0	195.0	201.0					20																	44166705		2203	4300	6503	43600119	SO:0001628	intergenic_variant	140870	exon2			AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"""WAP four-disulfide core domain containing"""	15932	protein-coding gene	gene with protein product	"""epididymal protease inhibitor"", ""cancer/testis antigen 72"""	609031	"""serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)"", ""serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"""	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588		20.37:g.44166705G>A			43600119	NM_080827	A6PVD6|Q86TP9|Q96SD7|Q9HD30	Silent	SNP	ENST00000354280.4	37	CCDS13359.1																																																																																				0.498	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4		
MMP9	4318	broad.mit.edu	37	20	44639920	44639920	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:44639920A>G	ENST00000372330.3	+	5	807	c.788A>G	c.(787-789)gAc>gGc	p.D263G	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	263	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D263G(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GCCAACTACGACACCGACGAC	0.652																																					p.D263G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A788G	20						.						59.0	61.0	61.0					20																	44639920		2203	4300	6503	44073327	SO:0001583	missense	4318	exon5				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.788A>G	20.37:g.44639920A>G	ENSP00000361405:p.Asp263Gly		44073327	NM_004994	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.628059	0.46944	.	.	ENSG00000100985	ENST00000372330	T	0.57595	0.39	4.56	4.56	0.56223	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.091688	0.64402	D	0.000001	T	0.73110	0.3545	M	0.83223	2.63	0.58432	D	0.999998	D	0.71674	0.998	D	0.87578	0.998	T	0.76708	-0.2860	10	0.52906	T	0.07	.	13.5392	0.61664	1.0:0.0:0.0:0.0	.	263	P14780	MMP9_HUMAN	G	263	ENSP00000361405:D263G	ENSP00000361405:D263G	D	+	2	0	MMP9	44073327	1.000000	0.71417	0.602000	0.28890	0.091000	0.18340	7.046000	0.76592	2.034000	0.60081	0.528000	0.53228	GAC		0.652	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1		
MMP9	4318	broad.mit.edu	37	20	44641101	44641101	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:44641101G>A	ENST00000372330.3	+	8	1229	c.1210G>A	c.(1210-1212)Ggc>Agc	p.G404S	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	404					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G404S(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GCATGAGTTCGGCCACGCGCT	0.642																																					p.G404S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1210A	20						.						65.0	61.0	63.0					20																	44641101		2203	4300	6503	44074508	SO:0001583	missense	4318	exon8				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1210G>A	20.37:g.44641101G>A	ENSP00000361405:p.Gly404Ser		44074508	NM_004994	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814290	0.90790	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.76968	-1.06	4.99	4.99	0.66335	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91143	0.7211	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93268	0.6649	10	0.87932	D	0	.	17.4497	0.87588	0.0:0.0:1.0:0.0	.	404	P14780	MMP9_HUMAN	S	404;49	ENSP00000361405:G404S	ENSP00000361405:G404S	G	+	1	0	MMP9	44074508	1.000000	0.71417	0.958000	0.39756	0.398000	0.30690	9.519000	0.98025	2.606000	0.88127	0.561000	0.74099	GGC		0.642	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1		
SLC2A10	81031	broad.mit.edu	37	20	45354683	45354683	+	Silent	SNP	C	C	T	rs370173604	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:45354683C>T	ENST00000359271.2	+	2	1258	c.1008C>T	c.(1006-1008)acC>acT	p.T336T		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	336					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)	p.T336T(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CCAATGCCACCGGGCAGACAG	0.617													c|||	6	0.00119808	0.0	0.0	5008	,	,		19145	0.004		0.0	False		,,,				2504	0.002				p.T336T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1008T	20						.						56.0	52.0	53.0					20																	45354683		2203	4300	6503	44788090	SO:0001819	synonymous_variant	81031	exon2			AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1008C>T	20.37:g.45354683C>T			44788090	NM_030777	A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	ENST00000359271.2	37	CCDS13402.1																																																																																				0.617	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2		
PROKR2	128674	broad.mit.edu	37	20	5282914	5282914	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:5282914C>T	ENST00000217270.3	-	2	926	c.927G>A	c.(925-927)aaG>aaA	p.K309K	PROKR2_ENST00000546004.1_Silent_p.K309K	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	309					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.K309K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGAGGTAGTGCTTTTCCTTCA	0.522										HNSCC(71;0.22)																											p.K309K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G927A	20						.						222.0	163.0	183.0					20																	5282914		2203	4300	6503	5230914	SO:0001819	synonymous_variant	128674	exon2			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.927G>A	20.37:g.5282914C>T			5230914	NM_144773	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	ENST00000217270.3	37	CCDS13089.1																																																																																				0.522	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773	
PREX1	57580	broad.mit.edu	37	20	47242442	47242442	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:47242442G>A	ENST00000371941.3	-	40	4983	c.4961C>T	c.(4960-4962)cCg>cTg	p.P1654L	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1654					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1654L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCCATCCACCGGCGGCTGGCA	0.617																																					p.P1654L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4961T	20						.						16.0	18.0	17.0					20																	47242442		2196	4294	6490	46675849	SO:0001583	missense	57580	exon40			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4961C>T	20.37:g.47242442G>A	ENSP00000361009:p.Pro1654Leu		46675849	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267149	0.80469	.	.	ENSG00000124126	ENST00000371941	T	0.77098	-1.07	4.09	4.09	0.47781	.	0.000000	0.51477	U	0.000097	D	0.85535	0.5719	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87315	0.2314	10	0.87932	D	0	.	13.8056	0.63230	0.0:0.0:1.0:0.0	.	1654;951	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	L	1654	ENSP00000361009:P1654L	ENSP00000361009:P1654L	P	-	2	0	PREX1	46675849	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	5.898000	0.69838	1.837000	0.53436	0.385000	0.25706	CCG		0.617	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
BMP7	655	broad.mit.edu	37	20	55758841	55758841	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:55758841G>A	ENST00000395863.3	-	4	1400	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Missense_Mutation_p.R299C	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	299					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)	p.R299C(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TTCTGGCTGCGCTGTTTGCTC	0.632																																					p.R299C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C895T	20						.						85.0	74.0	78.0					20																	55758841		2203	4300	6503	55192248	SO:0001583	missense	655	exon4				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.895C>T	20.37:g.55758841G>A	ENSP00000379204:p.Arg299Cys		55192248	NM_001719	Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	CCDS13455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.469338|4.469338	0.84533|0.84533	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000433911|ENST00000395863;ENST00000450594	.|T;D	.|0.82893	.|-1.18;-1.66	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88901|0.88901	0.6563|0.6563	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.95	D|D	0.89521|0.89521	0.3778|0.3778	5|10	.|0.72032	.|D	.|0.01	.|.	15.1003|15.1003	0.72269|0.72269	0.0:0.0:0.8496:0.1504|0.0:0.0:0.8496:0.1504	.|.	.|299;299	.|P18075;B1AL00	.|BMP7_HUMAN;.	V|C	220|299	.|ENSP00000379204:R299C;ENSP00000398687:R299C	.|ENSP00000379204:R299C	A|R	-|-	2|1	0|0	BMP7|BMP7	55192248|55192248	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.111000|5.111000	0.64628|0.64628	2.559000|2.559000	0.86315|0.86315	0.643000|0.643000	0.83706|0.83706	GCG|CGC		0.632	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		
CDH4	1002	broad.mit.edu	37	20	60427897	60427897	+	Missense_Mutation	SNP	C	C	T	rs555725508		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:60427897C>T	ENST00000360469.5	+	6	908	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	CDH4_ENST00000543233.1_Missense_Mutation_p.R200C	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	274	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.			R -> H (in Ref. 1; AAA35627). {ECO:0000305}.	adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R274C(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GAATGACAACCGCCCTGAGTT	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		19902	0.0		0.0	False		,,,				2504	0.001				p.R274C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C820T	20						.						215.0	168.0	184.0					20																	60427897		2203	4300	6503	59861292	SO:0001583	missense	1002	exon6			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.820C>T	20.37:g.60427897C>T	ENSP00000353656:p.Arg274Cys		59861292	NM_001794	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886122	0.51908	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.61627	0.09;0.09	4.76	3.74	0.42951	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.050159	0.85682	D	0.000000	T	0.74809	0.3765	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	P	0.60415	0.874	T	0.80167	-0.1495	9	.	.	.	.	14.0449	0.64700	0.206:0.794:0.0:0.0	.	274	P55283	CADH4_HUMAN	C	274;182;200	ENSP00000353656:R274C;ENSP00000443301:R200C	.	R	+	1	0	CDH4	59861292	1.000000	0.71417	0.995000	0.50966	0.580000	0.36256	2.065000	0.41442	2.202000	0.70862	0.561000	0.74099	CGC		0.567	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
CDH4	1002	broad.mit.edu	37	20	60469978	60469978	+	Missense_Mutation	SNP	T	T	G	rs207477702		TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:60469978T>G	ENST00000360469.5	+	8	1151	c.1063T>G	c.(1063-1065)Tac>Gac	p.Y355D	CDH4_ENST00000543233.1_Missense_Mutation_p.Y281D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	355	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y355D(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGTTCAGCAGTACACAGTCAT	0.433																																					p.Y355D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1063G	20						.						166.0	146.0	153.0					20																	60469978		2203	4300	6503	59903373	SO:0001583	missense	1002	exon8			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1063T>G	20.37:g.60469978T>G	ENSP00000353656:p.Tyr355Asp		59903373	NM_001794	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.891543	0.72524	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.70164	-0.46;-0.46	4.6	4.6	0.57074	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.89458	0.6721	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93612	0.6940	9	.	.	.	.	13.9657	0.64207	0.0:0.0:0.0:1.0	.	355	P55283	CADH4_HUMAN	D	355;263;281	ENSP00000353656:Y355D;ENSP00000443301:Y281D	.	Y	+	1	0	CDH4	59903373	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.394000	0.79862	1.712000	0.51347	0.477000	0.44152	TAC		0.433	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
CDH4	1002	broad.mit.edu	37	20	60503417	60503417	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:60503417C>T	ENST00000360469.5	+	12	2029	c.1941C>T	c.(1939-1941)taC>taT	p.Y647Y	CDH4_ENST00000543233.1_Silent_p.Y573Y	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	647	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y647Y(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCGGCCCCTACGTCTTCGAGC	0.652																																					p.Y647Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1941T	20						.						80.0	81.0	81.0					20																	60503417		2203	4300	6503	59936812	SO:0001819	synonymous_variant	1002	exon12			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1941C>T	20.37:g.60503417C>T			59936812	NM_001794	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	CCDS13488.1																																																																																				0.652	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
PAK7	57144	broad.mit.edu	37	20	9546574	9546574	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:9546574C>T	ENST00000378429.3	-	6	1994	c.1448G>A	c.(1447-1449)cGg>cAg	p.R483Q	PAK7_ENST00000353224.5_Missense_Mutation_p.R483Q|PAK7_ENST00000378423.1_Missense_Mutation_p.R483Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	483	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R483Q(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGTTGCTTCCGGAGGTCCAT	0.438																																					p.R483Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.G1448A	20						.						267.0	248.0	255.0					20																	9546574		2203	4300	6503	9494574	SO:0001583	missense	57144	exon5			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1448G>A	20.37:g.9546574C>T	ENSP00000367686:p.Arg483Gln		9494574	NM_177990	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345104	0.95807	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.65916	-0.18;-0.18;-0.18	5.29	5.29	0.74685	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	0.60753	0.2293	N	0.25485	0.75	0.80722	D	1	D;D	0.56035	0.974;0.974	P;P	0.51135	0.66;0.66	T	0.58470	-0.7631	9	.	.	.	.	18.9233	0.92534	0.0:1.0:0.0:0.0	.	483;483	B0AZM9;Q9P286	.;PAK7_HUMAN	Q	483;483;483;431	ENSP00000367686:R483Q;ENSP00000322957:R483Q;ENSP00000367679:R483Q	.	R	-	2	0	PAK7	9494574	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.818000	0.86416	2.452000	0.82932	0.460000	0.39030	CGG		0.438	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
ESF1	51575	broad.mit.edu	37	20	13763275	13763275	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:13763275delT	ENST00000202816.1	-	2	619	c.512delA	c.(511-513)aacfs	p.N171fs	NDUFAF5_ENST00000463598.1_5'Flank|NDUFAF5_ENST00000378106.5_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)	171					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.N171fs*18(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTGAACAATGTTTTTTTTCTC	0.318																																					p.N171fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.512delA	20						.			16,4244		6,4,2120	44.0	45.0	45.0			-6.7	0.0	20		46	15,8227		6,3,4112	no	frameshift	ESF1	NM_016649.3		12,7,6232	A1A1,A1R,RR		0.182,0.3756,0.248			13763275	31,12471	2201	4297	6498	13711275	SO:0001589	frameshift_variant	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.512delA	20.37:g.13763275delT	ENSP00000202816:p.Asn171fs		13711275	NM_016649	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Frame_Shift_Del	DEL	ENST00000202816.1	37	CCDS13117.1																																																																																				0.318	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649	
CD93	22918	broad.mit.edu	37	20	23066469	23066469	+	Frame_Shift_Del	DEL	C	C	-	rs377356934		TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:23066469delC	ENST00000246006.4	-	1	508	c.361delG	c.(361-363)gagfs	p.E121fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	121	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.E121fs*79(2)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCGTGTCCTCCCCCCCGCCC	0.627																																					p.E121fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.361delG	20						.						17.0	20.0	19.0					20																	23066469		2198	4289	6487	23014469	SO:0001589	frameshift_variant	22918	exon1			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.361delG	20.37:g.23066469delC	ENSP00000246006:p.Glu121fs		23014469	NM_012072	O00274	Frame_Shift_Del	DEL	ENST00000246006.4	37	CCDS13149.1																																																																																				0.627	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072	
PTPRT	11122	broad.mit.edu	37	20	41419930	41419930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:41419930delG	ENST00000373187.1	-	3	390	c.391delC	c.(391-393)caafs	p.Q131fs	PTPRT_ENST00000373190.1_Frame_Shift_Del_p.Q131fs|PTPRT_ENST00000373184.1_Frame_Shift_Del_p.Q131fs|PTPRT_ENST00000373198.4_Frame_Shift_Del_p.Q131fs|PTPRT_ENST00000373201.1_Frame_Shift_Del_p.Q131fs|PTPRT_ENST00000356100.2_Frame_Shift_Del_p.Q131fs|PTPRT_ENST00000373193.3_Frame_Shift_Del_p.Q131fs			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	131	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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.Q131fs*17(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)				GGGTTCCCTTGGGGGCCACCA	0.567																																					p.Q131fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.391delC	20						.						78.0	81.0	80.0					20																	41419930		1973	4169	6142	40853344	SO:0001589	frameshift_variant	11122	exon3			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.391delC	20.37:g.41419930delG	ENSP00000362283:p.Gln131fs		40853344	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Frame_Shift_Del	DEL	ENST00000373187.1	37	CCDS42874.1																																																																																				0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
ZNF512B	57473	broad.mit.edu	37	20	62598771	62598771	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr20:62598771C>T	ENST00000450537.1	-	3	287	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	ZNF512B_ENST00000369888.1_Missense_Mutation_p.R76Q|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R76Q			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	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)	p.R76Q(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)					GGCTTTTGGCCGCCCCTTTTT	0.637																																					p.R76Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G227A	20						.						139.0	135.0	136.0					20																	62598771		2203	4300	6503	62069215	SO:0001583	missense	57473	exon3			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.227G>A	20.37:g.62598771C>T	ENSP00000393795:p.Arg76Gln		62069215	NM_020713	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255525	0.95336	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.56444	0.46;0.46;0.46	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	L	0.29908	0.895	0.38883	D	0.956947	D	0.89917	1.0	D	0.63957	0.92	T	0.66380	-0.5938	10	0.72032	D	0.01	-18.7485	17.2884	0.87149	0.0:1.0:0.0:0.0	.	76	Q96KM6	Z512B_HUMAN	Q	76	ENSP00000358904:R76Q;ENSP00000393795:R76Q;ENSP00000217130:R76Q	ENSP00000217130:R76Q	R	-	2	0	ZNF512B	62069215	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	6.698000	0.74608	2.513000	0.84729	0.561000	0.74099	CGG		0.637	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	
TECPR2	9895	broad.mit.edu	37	14	102891387	102891387	+	Missense_Mutation	SNP	G	G	A	rs551413559		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:102891387G>A	ENST00000359520.7	+	6	936	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.R237Q	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	237					autophagy (GO:0006914)|cell death (GO:0008219)			p.R237Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TATGCGTCACGGCCCGGGCTC	0.453																																					p.R237Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G710A	14						.						95.0	101.0	99.0					14																	102891387		2203	4300	6503	101961140	SO:0001583	missense	9895	exon6			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.710G>A	14.37:g.102891387G>A	ENSP00000352510:p.Arg237Gln		101961140	NM_014844	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.155605	0.78114	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.24723	1.84	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.45357	0.1338	M	0.86268	2.805	0.37982	D	0.933628	D;D	0.64830	0.994;0.973	P;P	0.48114	0.553;0.567	T	0.61850	-0.6978	10	0.87932	D	0	.	18.9389	0.92597	0.0:0.0:1.0:0.0	.	237;237	A5PKY3;O15040	.;TCPR2_HUMAN	Q	237	ENSP00000352510:R237Q	ENSP00000352510:R237Q	R	+	2	0	TECPR2	101961140	1.000000	0.71417	0.913000	0.36048	0.108000	0.19459	8.524000	0.90579	2.476000	0.83614	0.552000	0.68991	CGG		0.453	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844	
ARHGEF40	55701	broad.mit.edu	37	14	21549050	21549050	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:21549050C>T	ENST00000298694.4	+	13	2642	c.2515C>T	c.(2515-2517)Cgg>Tgg	p.R839W	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R839W			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	839						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R839W(1)		large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GGCCCAGGCACGGGAGGCCCT	0.652																																					p.R839W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2515T	14						.						59.0	60.0	60.0					14																	21549050		2203	4300	6503	20618890	SO:0001583	missense	55701	exon13				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2515C>T	14.37:g.21549050C>T	ENSP00000298694:p.Arg839Trp		20618890	NM_018071	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	De_novo_Start_OutOfFrame	SNP	ENST00000298694.4	37	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439550	0.63067	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02916	4.17;4.11	5.52	2.39	0.29439	.	0.290182	0.24463	N	0.038316	T	0.06142	0.0159	N	0.19112	0.55	0.25955	N	0.9827	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.982	T	0.20638	-1.0269	10	0.56958	D	0.05	.	10.9969	0.47582	0.5259:0.4741:0.0:0.0	.	839;839	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	W	839	ENSP00000298694:R839W;ENSP00000298693:R839W	ENSP00000298693:R839W	R	+	1	2	ARHGEF40	20618890	0.047000	0.20315	0.945000	0.38365	0.958000	0.62258	0.140000	0.16056	0.601000	0.29879	0.555000	0.69702	CGG		0.652	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1		
LRP10	26020	broad.mit.edu	37	14	23346661	23346661	+	Silent	SNP	C	C	T	rs144502939		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:23346661C>T	ENST00000359591.4	+	7	2758	c.2067C>T	c.(2065-2067)gaC>gaT	p.D689D	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_3'UTR	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	689					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D689D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AAGATGAGGACGATGTGCTAC	0.682																																					p.D689D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2067T	14						.	T		0,4406		0,0,2203	30.0	33.0	32.0		2067	-9.9	0.4	14	dbSNP_134	32	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	LRP10	NM_014045.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		689/714	23346661	1,13003	2203	4299	6502	22416501	SO:0001819	synonymous_variant	26020	exon7			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.2067C>T	14.37:g.23346661C>T			22416501	NM_014045	A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Silent	SNP	ENST00000359591.4	37	CCDS9578.1																																																																																				0.682	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3		
MYH6	4624	broad.mit.edu	37	14	23851697	23851697	+	Silent	SNP	C	C	T	rs150277296		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:23851697C>T	ENST00000356287.3	-	37	5765	c.5736G>A	c.(5734-5736)gcG>gcA	p.A1912A	MYH6_ENST00000405093.3_Silent_p.A1912A			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1912					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.A1912A(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CAGCGATGTCCGCCCGCTCCT	0.597																																					p.A1912A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5736A	14						.	C		1,4405	2.1+/-5.4	0,1,2202	179.0	157.0	165.0		5736	-8.1	0.1	14	dbSNP_134	165	0,8600		0,0,4300	no	coding-synonymous	MYH6	NM_002471.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1912/1940	23851697	1,13005	2203	4300	6503	22921537	SO:0001819	synonymous_variant	4624	exon38			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5736G>A	14.37:g.23851697C>T			22921537	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	CCDS9600.1																																																																																				0.597	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
MYH6	4624	broad.mit.edu	37	14	23855205	23855205	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:23855205G>A	ENST00000356287.3	-	33	5124	c.5095C>T	c.(5095-5097)Cgg>Tgg	p.R1699W	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.R1699W			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1699					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.R1699W(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCCGGGACCGCTCTGTCTGC	0.642																																					p.R1699W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5095T	14						.						61.0	55.0	57.0					14																	23855205		2203	4300	6503	22925045	SO:0001583	missense	4624	exon34			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5095C>T	14.37:g.23855205G>A	ENSP00000348634:p.Arg1699Trp		22925045	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	18.29	3.590975	0.66219	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.85013	-1.93;-1.93	4.26	0.371	0.16168	Myosin tail (1);	.	.	.	.	D	0.94515	0.8234	H	0.97635	4.045	0.49213	D	0.99976	D	0.89917	1.0	D	0.97110	1.0	D	0.95315	0.8415	9	0.87932	D	0	.	14.0632	0.64812	0.0:0.0:0.4524:0.5476	.	1699	P13533	MYH6_HUMAN	W	1699	ENSP00000386041:R1699W;ENSP00000348634:R1699W	ENSP00000348634:R1699W	R	-	1	2	MYH6	22925045	0.954000	0.32549	0.994000	0.49952	0.967000	0.64934	0.138000	0.16016	0.307000	0.22880	0.561000	0.74099	CGG		0.642	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
MYH7	4625	broad.mit.edu	37	14	23886115	23886115	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:23886115C>T	ENST00000355349.3	-	33	4768	c.4606G>A	c.(4606-4608)Gag>Aag	p.E1536K	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1536					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.E1536K(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)		TCCATCTTCTCGGCCTCCAGC	0.597																																					p.E1536K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4606A	14						.						107.0	88.0	94.0					14																	23886115		2203	4300	6503	22955955	SO:0001583	missense	4625	exon33			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.4606G>A	14.37:g.23886115C>T	ENSP00000347507:p.Glu1536Lys		22955955	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331894	0.95733	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.86627	-2.15	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	D	0.93677	0.7980	H	0.95504	3.68	0.80722	D	1	D	0.52996	0.957	P	0.50440	0.641	D	0.95564	0.8632	9	0.87932	D	0	.	18.4802	0.90808	0.0:1.0:0.0:0.0	.	1536	P12883	MYH7_HUMAN	K	1536;1541	ENSP00000347507:E1536K	ENSP00000347507:E1536K	E	-	1	0	MYH7	22955955	1.000000	0.71417	0.955000	0.39395	0.800000	0.45204	7.310000	0.78947	2.586000	0.87340	0.655000	0.94253	GAG		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
LRRC16B	90668	broad.mit.edu	37	14	24528539	24528539	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:24528539A>G	ENST00000342740.5	+	21	1841	c.1687A>G	c.(1687-1689)Aat>Gat	p.N563D	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	563						cytoplasm (GO:0005737)		p.N563D(1)		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)		CATCCTCATCAATGCCCTGGG	0.617																																					p.N563D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1687G	14						.						69.0	59.0	62.0					14																	24528539		2203	4300	6503	23598379	SO:0001583	missense	90668	exon21			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		ENST00000342740.5:c.1687A>G	14.37:g.24528539A>G	ENSP00000340467:p.Asn563Asp		23598379	NM_138360	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.368824	0.42003	.	.	ENSG00000186648	ENST00000342740	T	0.52754	0.65	5.27	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	L	0.48935	1.535	0.80722	D	1	D	0.55172	0.97	P	0.51833	0.681	T	0.31613	-0.9937	10	0.16896	T	0.51	-11.6153	10.5843	0.45273	0.838:0.162:0.0:0.0	.	563	Q8ND23	LR16B_HUMAN	D	563	ENSP00000340467:N563D	ENSP00000340467:N563D	N	+	1	0	LRRC16B	23598379	1.000000	0.71417	0.994000	0.49952	0.176000	0.22953	9.137000	0.94496	1.002000	0.39104	-0.323000	0.08544	AAT		0.617	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360	
AKAP6	9472	broad.mit.edu	37	14	33147592	33147592	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:33147592C>T	ENST00000280979.4	+	8	2976	c.2806C>T	c.(2806-2808)Cag>Tag	p.Q936*	AKAP6_ENST00000557272.1_Nonsense_Mutation_p.Q936*|AKAP6_ENST00000557354.1_Nonsense_Mutation_p.Q936*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	936					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.Q936*(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTACAGCGAGCAGTATACCAG	0.433																																					p.Q936X	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2806T	14						.						166.0	149.0	155.0					14																	33147592		2203	4300	6503	32217343	SO:0001587	stop_gained	9472	exon8			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2806C>T	14.37:g.33147592C>T	ENSP00000280979:p.Gln936*		32217343	NM_004274	A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	42	9.706841	0.99244	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	.	.	.	5.3	5.3	0.74995	.	0.079753	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-9.1012	17.1295	0.86723	0.0:1.0:0.0:0.0	.	.	.	.	X	936	.	ENSP00000280979:Q936X	Q	+	1	0	AKAP6	32217343	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.356000	0.66052	2.480000	0.83734	0.585000	0.79938	CAG		0.433	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
SRP54	6729	broad.mit.edu	37	14	35492189	35492189	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:35492189G>A	ENST00000556994.1	+	15	1627	c.1230G>A	c.(1228-1230)tcG>tcA	p.S410S	SRP54_ENST00000216774.6_Silent_p.S410S|SRP54_ENST00000555557.1_Silent_p.S346S|SRP54_ENST00000546080.1_Silent_p.S361S			P61011	SRP54_HUMAN	signal recognition particle 54kDa	410	M-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.S410S(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)		CAAGAGGATCGGGTGTATCAA	0.393																																					p.S410S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1230A	14						.						106.0	98.0	101.0					14																	35492189		2203	4300	6503	34561940	SO:0001819	synonymous_variant	6729	exon14			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.1230G>A	14.37:g.35492189G>A			34561940	NM_003136	B2R759|B4DUW6|P13624	Silent	SNP	ENST00000556994.1	37	CCDS9652.1																																																																																				0.393	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136	
TRIM9	114088	broad.mit.edu	37	14	51561006	51561006	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:51561006T>G	ENST00000298355.3	-	1	1773	c.652A>C	c.(652-654)Agc>Cgc	p.S218R	RP11-1140I5.1_ENST00000554475.1_RNA|TRIM9_ENST00000360392.4_Missense_Mutation_p.S218R|TRIM9_ENST00000338969.5_Missense_Mutation_p.S218R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	218					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S218R(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AGCCTCCGGCTCACACGACCC	0.672																																					p.S218R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A652C	14						.						43.0	37.0	39.0					14																	51561006		2203	4300	6503	50630756	SO:0001583	missense	114088	exon1			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.652A>C	14.37:g.51561006T>G	ENSP00000298355:p.Ser218Arg		50630756	NM_052978	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.642723	0.47153	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.72835	-0.54;-0.69;0.37	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	N	0.19112	0.55	0.47183	D	0.999345	P;P;B	0.42375	0.762;0.778;0.394	B;B;B	0.40901	0.255;0.343;0.05	T	0.52771	-0.8531	10	0.16420	T	0.52	.	12.6409	0.56709	0.0:0.0:0.0:1.0	.	218;218;218	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	R	218	ENSP00000298355:S218R;ENSP00000342970:S218R;ENSP00000353561:S218R	ENSP00000298355:S218R	S	-	1	0	TRIM9	50630756	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.981000	0.63819	1.865000	0.54081	0.459000	0.35465	AGC		0.672	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163	
SAMD4A	23034	broad.mit.edu	37	14	55251328	55251328	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:55251328C>T	ENST00000554335.1	+	12	2781	c.2118C>T	c.(2116-2118)caC>caT	p.H706H	SAMD4A_ENST00000251091.5_Silent_p.H618H|SAMD4A_ENST00000555192.1_Silent_p.H333H|SAMD4A_ENST00000392067.3_Silent_p.H706H|SAMD4A_ENST00000357634.3_Silent_p.H705H			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	706					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.H705H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TGACCGAACACGCCCTGGGAG	0.552																																					p.H705H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2115T	14						.						245.0	186.0	206.0					14																	55251328		2203	4300	6503	54321078	SO:0001819	synonymous_variant	23034	exon11			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.2118C>T	14.37:g.55251328C>T			54321078	NM_015589	A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	CCDS32084.2																																																																																				0.552	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589	
SYNE2	23224	broad.mit.edu	37	14	64604534	64604534	+	Silent	SNP	C	C	T	rs375987275		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:64604534C>T	ENST00000344113.4	+	79	14888	c.14676C>T	c.(14674-14676)caC>caT	p.H4892H	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.H1526H|SYNE2_ENST00000358025.3_Silent_p.H4892H|SYNE2_ENST00000357395.3_Silent_p.H1277H|SYNE2_ENST00000394768.2_Silent_p.H1277H|SYNE2_ENST00000554584.1_Silent_p.H4809H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4892					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.H4892H(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)		GTGGAAAACACGCCCGGCTTT	0.403																																					p.H4892H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C14676T	14						.						75.0	73.0	73.0					14																	64604534		2203	4300	6503	63674287	SO:0001819	synonymous_variant	23224	exon79			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.14676C>T	14.37:g.64604534C>T			63674287	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.403	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
PLEKHG3	26030	broad.mit.edu	37	14	65208193	65208193	+	Missense_Mutation	SNP	G	G	A	rs377488568		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:65208193G>A	ENST00000394691.1	+	16	2105	c.1958G>A	c.(1957-1959)cGg>cAg	p.R653Q	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R158Q|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R597Q|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R186Q			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	653							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R597Q(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCCTGGCCCGGCATGGCAGT	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16501	0.0		0.0	False		,,,				2504	0.0				p.R597Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1790A	14						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	32.0	37.0	36.0		1790	-0.6	0.0	14		36	0,8600		0,0,4300	no	missense	PLEKHG3	NM_015549.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	597/1164	65208193	1,13005	2203	4300	6503	64277946	SO:0001583	missense	26030	exon14			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1958G>A	14.37:g.65208193G>A	ENSP00000378183:p.Arg653Gln		64277946	NM_015549	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37		.	.	.	.	.	.	.	.	.	.	G	3.951	-0.012261	0.07727	2.27E-4	0.0	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.78	-0.579	0.11720	.	1.057360	0.07363	N	0.884397	T	0.75451	0.3851	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.23316	0.043;0.043;0.05;0.083	B;B;B;B	0.14578	0.008;0.005;0.005;0.011	T	0.55490	-0.8133	10	0.10902	T	0.67	.	1.3829	0.02234	0.1961:0.1879:0.397:0.219	.	186;158;653;597	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	Q	597;653;186;158	ENSP00000247226:R597Q;ENSP00000378183:R653Q;ENSP00000450945:R186Q;ENSP00000450973:R158Q	ENSP00000247226:R597Q	R	+	2	0	PLEKHG3	64277946	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.082000	0.03400	-0.066000	0.12998	0.655000	0.94253	CGG		0.652	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549	
SPTB	6710	broad.mit.edu	37	14	65216131	65216131	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:65216131G>A	ENST00000556626.1	-	36	7022	c.6880C>T	c.(6880-6882)Cgc>Tgc	p.R2294C	SPTB_ENST00000389722.3_Missense_Mutation_p.R2294C|SPTB_ENST00000342835.4_5'UTR			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R2294C(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCTTGACGCGGATGCTCTGG	0.642																																					p.R2294C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6880T	14						.						54.0	49.0	51.0					14																	65216131		2203	4300	6503	64285884	SO:0001583	missense	6710	exon35				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6880C>T	14.37:g.65216131G>A	ENSP00000451752:p.Arg2294Cys		64285884	NM_001024858	Q15510|Q15519	Missense_Mutation	SNP	ENST00000556626.1	37	CCDS32099.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107232	0.56291	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626	T;T;T	0.71817	-0.6;0.21;-0.6	4.75	4.75	0.60458	.	0.307216	0.30410	N	0.009689	T	0.62974	0.2472	L	0.34521	1.04	0.80722	D	1	D;P	0.53462	0.96;0.93	P;B	0.46339	0.513;0.39	T	0.66408	-0.5931	10	0.56958	D	0.05	.	10.5274	0.44957	0.0:0.0:0.686:0.314	.	1113;2298	E7EV95;Q59FP5	.;.	C	2298;2294;1113;994;2294	ENSP00000374372:R2294C;ENSP00000451324:R994C;ENSP00000451752:R2294C	ENSP00000334218:R1113C	R	-	1	0	SPTB	64285884	0.999000	0.42202	0.999000	0.59377	0.930000	0.56654	2.012000	0.40932	2.183000	0.69458	0.511000	0.50034	CGC		0.642	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414076.1		
ACTN1	87	broad.mit.edu	37	14	69356871	69356871	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:69356871C>T	ENST00000193403.6	-	11	1602	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	ACTN1_ENST00000376839.3_Missense_Mutation_p.E342K|ACTN1_ENST00000394419.4_Missense_Mutation_p.E407K|ACTN1_ENST00000438964.2_Missense_Mutation_p.E407K|ACTN1_ENST00000538545.2_Missense_Mutation_p.E407K	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	407	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)	p.E407K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GTCCAGGCCTCGTGGATGGAG	0.612																																					p.E407K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1219A	14						.						53.0	43.0	46.0					14																	69356871		2203	4300	6503	68426624	SO:0001583	missense	87	exon11			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1219G>A	14.37:g.69356871C>T	ENSP00000193403:p.Glu407Lys		68426624	NM_001130005	B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347647	0.95807	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.77718	0.4172	M	0.88704	2.975	0.80722	D	1	D;D;D;P	0.89917	0.999;1.0;0.997;0.91	D;D;P;P	0.83275	0.975;0.996;0.847;0.775	T	0.82841	-0.0258	10	0.87932	D	0	.	18.1072	0.89524	0.0:1.0:0.0:0.0	.	407;407;407;407	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	K	407;407;407;342;407	ENSP00000193403:E407K;ENSP00000377941:E407K;ENSP00000414272:E407K;ENSP00000366035:E342K;ENSP00000439828:E407K	ENSP00000193403:E407K	E	-	1	0	ACTN1	68426624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.492000	0.84095	0.655000	0.94253	GAG		0.612	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102	
SLC8A3	6547	broad.mit.edu	37	14	70633744	70633744	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:70633744C>T	ENST00000381269.2	-	2	2149	c.1396G>A	c.(1396-1398)Gtg>Atg	p.V466M	SLC8A3_ENST00000534137.1_Missense_Mutation_p.V466M|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V466M|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V466M|SLC8A3_ENST00000357887.3_Missense_Mutation_p.V466M	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	466	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.V466M(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATTATGCCCACGGAGAACTCC	0.517																																					p.V466M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1396A	14						.						166.0	166.0	166.0					14																	70633744		2203	4300	6503	69703497	SO:0001583	missense	6547	exon2			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1396G>A	14.37:g.70633744C>T	ENSP00000370669:p.Val466Met		69703497	NM_033262	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	9.906	1.208242	0.22205	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.53	5.53	0.82687	Na-Ca exchanger/integrin-beta4 (2);	0.137463	0.49916	D	0.000136	T	0.72574	0.3477	M	0.93678	3.445	0.58432	D	0.999996	D;D;D;D	0.64830	0.958;0.984;0.994;0.984	P;P;P;P	0.59643	0.674;0.832;0.861;0.861	T	0.79581	-0.1744	10	0.62326	D	0.03	.	13.7206	0.62725	0.0:0.9264:0.0:0.0736	.	466;466;466;466	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	M	466	ENSP00000349392:V466M;ENSP00000370669:V466M;ENSP00000350560:V466M;ENSP00000436688:V466M;ENSP00000433531:V466M	ENSP00000349392:V466M	V	-	1	0	SLC8A3	69703497	0.984000	0.35163	0.986000	0.45419	0.198000	0.23893	2.546000	0.45778	2.587000	0.87381	0.643000	0.83706	GTG		0.517	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1		
NUMB	8650	broad.mit.edu	37	14	73753996	73753996	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:73753996G>A	ENST00000355058.3	-	9	755	c.477C>T	c.(475-477)ggC>ggT	p.G159G	NUMB_ENST00000557597.1_Silent_p.G148G|NUMB_ENST00000555394.1_Silent_p.G159G|NUMB_ENST00000554546.1_Silent_p.G148G|NUMB_ENST00000560335.1_Silent_p.G159G|NUMB_ENST00000555238.1_Silent_p.G159G|NUMB_ENST00000554521.2_Silent_p.G148G|NUMB_ENST00000454166.4_Silent_p.G159G|NUMB_ENST00000359560.3_Silent_p.G148G|NUMB_ENST00000356296.4_Silent_p.G159G|NUMB_ENST00000535282.1_Silent_p.G148G|NUMB_ENST00000544991.3_Silent_p.G159G|NUMB_ENST00000559312.1_Silent_p.G159G|NUMB_ENST00000556772.1_Silent_p.G15G|NUMB_ENST00000555738.2_Silent_p.G148G			P49757	NUMB_HUMAN	numb homolog (Drosophila)	159	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G159G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CAAAAGCACAGCCTACTGCAT	0.413																																					p.G159G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C477T	14						.						77.0	66.0	70.0					14																	73753996		2203	4300	6503	72823749	SO:0001819	synonymous_variant	8650	exon9			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.477C>T	14.37:g.73753996G>A			72823749	NM_001005744	B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Silent	SNP	ENST00000355058.3	37	CCDS32116.1																																																																																				0.413	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1		
PGF	5228	broad.mit.edu	37	14	75416217	75416217	+	Missense_Mutation	SNP	C	C	T	rs559671641		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:75416217C>T	ENST00000405431.2	-	3	157	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	PGF_ENST00000238607.6_Missense_Mutation_p.R52Q|PGF_ENST00000553716.1_Missense_Mutation_p.R53Q|PGF_ENST00000555567.1_Missense_Mutation_p.R53Q			P49763	PLGF_HUMAN	placental growth factor	53					branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.R53Q(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	CTCCAGCGCCCGGCAGTAGCT	0.657																																					p.R53Q	GBM(127;389 2301 5452 48547)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G158A	14						.						31.0	29.0	29.0					14																	75416217		2202	4295	6497	74485970	SO:0001583	missense	5228	exon3			S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"""placenta growth factor"""	601121	"""placental growth factor-like"", ""placental growth factor, vascular endothelial growth factor-related protein"""	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.158G>A	14.37:g.75416217C>T	ENSP00000385365:p.Arg53Gln		74485970	NM_002632	Q07101|Q9BV78|Q9Y6S8	Missense_Mutation	SNP	ENST00000405431.2	37	CCDS9835.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058307	0.76074	.	.	ENSG00000119630	ENST00000555567;ENST00000553716;ENST00000238607;ENST00000405431	.	.	.	4.33	4.33	0.51752	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.44808	0.1311	L	0.31752	0.955	0.35342	D	0.786612	P;D;D;P	0.71674	0.771;0.998;0.994;0.805	B;P;P;B	0.55087	0.366;0.768;0.549;0.238	T	0.54351	-0.8307	9	0.42905	T	0.14	.	7.9104	0.29787	0.0:0.8169:0.0:0.1831	.	53;53;52;53	P49763;P49763-2;G3XA84;Q53XY6	PLGF_HUMAN;.;.;.	Q	53;53;52;53	.	ENSP00000238607:R53Q	R	-	2	0	PGF	74485970	0.999000	0.42202	0.994000	0.49952	0.998000	0.95712	3.245000	0.51407	2.241000	0.73720	0.561000	0.74099	CGG		0.657	PGF-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414064.1	NM_002632	
ZC3H14	79882	broad.mit.edu	37	14	89041146	89041146	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:89041146G>A	ENST00000251038.5	+	7	1196	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	ZC3H14_ENST00000393514.5_Missense_Mutation_p.R324Q|ZC3H14_ENST00000557607.1_Missense_Mutation_p.R169Q|ZC3H14_ENST00000555755.1_Missense_Mutation_p.R324Q|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000302216.8_Missense_Mutation_p.R324Q|ZC3H14_ENST00000556945.1_Missense_Mutation_p.R324Q|ZC3H14_ENST00000336693.4_Missense_Mutation_p.R290Q|ZC3H14_ENST00000359301.3_Missense_Mutation_p.R290Q	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	324						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R324Q(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TACGGGTCTCGAACAGGAAGC	0.428																																					p.R324Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G971A	14						.						82.0	77.0	78.0					14																	89041146		2203	4300	6503	88110899	SO:0001583	missense	79882	exon7			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.971G>A	14.37:g.89041146G>A	ENSP00000251038:p.Arg324Gln		88110899	NM_001160104	A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.041328|4.041328	0.75732|0.75732	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000556000|ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.183367	.|0.49916	.|D	.|0.000121	T|T	0.73931|0.73931	0.3650|0.3650	M|M	0.68952|0.68952	2.095|2.095	0.47698|0.47698	D|D	0.999496|0.999496	.|B;D;D;D;D;D	.|0.69078	.|0.043;0.997;0.991;0.967;0.997;0.967	.|B;P;P;B;P;P	.|0.54590	.|0.005;0.756;0.539;0.435;0.756;0.458	T|T	0.73839|0.73839	-0.3856|-0.3856	5|9	.|0.48119	.|T	.|0.1	-6.9583|-6.9583	19.9093|19.9093	0.97021|0.97021	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|324;305;324;324;324;324	.|G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.|.;.;.;.;.;ZC3HE_HUMAN	K|Q	240|324;324;324;290;324;305;324;169;324;324;290	.|.	.|ENSP00000251038:R324Q	E|R	+|+	1|2	0|0	ZC3H14|ZC3H14	88110899|88110899	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.812000|0.812000	0.45895|0.45895	8.260000|8.260000	0.89857|0.89857	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.428	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824	
ASB2	51676	broad.mit.edu	37	14	94420823	94420823	+	Silent	SNP	C	C	T	rs201823942		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:94420823C>T	ENST00000315988.4	-	2	662	c.174G>A	c.(172-174)gcG>gcA	p.A58A	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Silent_p.A106A	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	58					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.A58A(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)		TCAAGGGGTCCGCAGGCCTGT	0.597																																					p.A58A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G174A	14						.						72.0	64.0	66.0					14																	94420823		2203	4300	6503	93490576	SO:0001819	synonymous_variant	51676	exon2			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.174G>A	14.37:g.94420823C>T			93490576	NM_016150	B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	CCDS9915.1																																																																																				0.597	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1		
PPP4R4	57718	broad.mit.edu	37	14	94712822	94712822	+	Silent	SNP	C	C	T	rs577099284		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:94712822C>T	ENST00000304338.3	+	14	1711	c.1557C>T	c.(1555-1557)agC>agT	p.S519S		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	519					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.S519S(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TCATATCAAGCGATCAGATTT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		18895	0.0		0.0	False		,,,				2504	0.001				p.S519S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1557T	14						.						120.0	117.0	118.0					14																	94712822		2203	4300	6503	93782575	SO:0001819	synonymous_variant	57718	exon14			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1557C>T	14.37:g.94712822C>T			93782575	NM_058237	Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	37	CCDS9921.1																																																																																				0.408	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
SERPINA12	145264	broad.mit.edu	37	14	94964255	94964255	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:94964255G>A	ENST00000341228.2	-	3	1275	c.480C>T	c.(478-480)gcC>gcT	p.A160A	SERPINA12_ENST00000556881.1_Silent_p.A160A	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	160					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A160A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGATGGTTTCGGCACTGTAAA	0.443																																					p.A160A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C480T	14						.						113.0	109.0	110.0					14																	94964255		2203	4300	6503	94034008	SO:0001819	synonymous_variant	145264	exon3			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.480C>T	14.37:g.94964255G>A			94034008	NM_173850		Silent	SNP	ENST00000341228.2	37	CCDS9926.1																																																																																				0.443	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850	
KIF26A	26153	broad.mit.edu	37	14	104633326	104633326	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:104633326delC	ENST00000423312.2	+	5	1054	c.1054delC	c.(1054-1056)cccfs	p.P353fs	KIF26A_ENST00000315264.7_Frame_Shift_Del_p.P214fs	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	353					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.C354fs*19(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCCCCCGGCGCCCCCCTGCCT	0.731																																					p.P352fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1054delC	14						.						8.0	12.0	11.0					14																	104633326		1855	4024	5879	103703079	SO:0001589	frameshift_variant	26153	exon5			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1054delC	14.37:g.104633326delC	ENSP00000388241:p.Pro353fs		103703079	NM_015656	Q8TAZ7|Q96GK3|Q9UFL3	Frame_Shift_Del	DEL	ENST00000423312.2	37	CCDS45171.1																																																																																				0.731	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1		
INF2	64423	broad.mit.edu	37	14	105169745	105169745	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:105169745delC	ENST00000392634.4	+	4	733	c.621delC	c.(619-621)ggcfs	p.G207fs	INF2_ENST00000398337.4_Frame_Shift_Del_p.G207fs|INF2_ENST00000330634.7_Frame_Shift_Del_p.G207fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	207	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.E209fs*>26(1)|p.E209fs*34(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCATCTTGGGCCCCGAGGACC	0.647																																					p.G207fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.621delC	14						.						70.0	76.0	74.0					14																	105169745		2145	4250	6395	104240790	SO:0001589	frameshift_variant	64423	exon4			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.621delC	14.37:g.105169745delC	ENSP00000376410:p.Gly207fs		104240790	NM_032714	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Del	DEL	ENST00000392634.4	37	CCDS9989.2																																																																																				0.647	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489	
AHNAK2	113146	broad.mit.edu	37	14	105405244	105405244	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:105405244G>A	ENST00000333244.5	-	7	16663	c.16544C>T	c.(16543-16545)tCg>tTg	p.S5515L	AHNAK2_ENST00000557457.1_Missense_Mutation_p.S513L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5515						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.S485L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAATCCGTACGAAGGTGTTTG	0.468																																					p.S5515L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C16544T	14						.						54.0	50.0	51.0					14																	105405244		1871	4100	5971	104476289	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.16544C>T	14.37:g.105405244G>A	ENSP00000353114:p.Ser5515Leu		104476289	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607943	0.66558	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.01068	5.38;5.38	5.55	5.55	0.83447	.	0.342975	0.20801	U	0.085431	T	0.05914	0.0154	L	0.59436	1.845	0.19945	N	0.999948	D	0.89917	1.0	D	0.72338	0.977	T	0.32481	-0.9905	10	0.34782	T	0.22	.	19.5026	0.95103	0.0:0.0:1.0:0.0	.	5515	Q8IVF2	AHNK2_HUMAN	L	513;5515	ENSP00000450998:S513L;ENSP00000353114:S5515L	ENSP00000353114:S5515L	S	-	2	0	AHNAK2	104476289	0.854000	0.29725	0.011000	0.14972	0.046000	0.14306	5.055000	0.64282	2.612000	0.88384	0.655000	0.94253	TCG		0.468	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
BRF1	2972	broad.mit.edu	37	14	105693010	105693010	+	Frame_Shift_Del	DEL	G	G	-	rs369618475		TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:105693010delG	ENST00000546474.1	-	8	15835	c.876delC	c.(874-876)cccfs	p.P292fs	BRF1_ENST00000379937.2_Frame_Shift_Del_p.P265fs|BRF1_ENST00000392557.4_Frame_Shift_Del_p.P88fs|BRF1_ENST00000327359.3_Frame_Shift_Del_p.P177fs|BRF1_ENST00000379932.4_Frame_Shift_Del_p.P88fs|BRF1_ENST00000551787.1_Frame_Shift_Del_p.P88fs|BRF1_ENST00000440513.3_Frame_Shift_Del_p.P177fs|BRF1_ENST00000446501.2_Frame_Shift_Del_p.P54fs	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	292					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)	p.S293fs*11(1)		NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CTGTGTACGAGGGGGGGTCGC	0.582																																					p.P88fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.264delC	14						.						63.0	65.0	64.0					14																	105693010		2203	4300	6503	104764055	SO:0001589	frameshift_variant	2972	exon4			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.876delC	14.37:g.105693010delG	ENSP00000448323:p.Pro292fs		104764055	NM_145685	B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Frame_Shift_Del	DEL	ENST00000546474.1	37	CCDS10001.1																																																																																				0.582	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519	
GEMIN2	8487	broad.mit.edu	37	14	39583642	39583642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:39583642delC	ENST00000308317.6	+	1	216	c.133delC	c.(133-135)cccfs	p.P46fs	GEMIN2_ENST00000396249.2_Frame_Shift_Del_p.P46fs|GEMIN2_ENST00000250379.8_Frame_Shift_Del_p.P46fs	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	46					gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)		p.P46fs*8(1)									TCCCTCGGTACCCCCGAGGAC	0.642																																					p.P45fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.133delC	14						.						43.0	42.0	42.0					14																	39583642		2203	4300	6503	38653393	SO:0001589	frameshift_variant	8487	exon1			AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"""survival of motor neuron protein interacting protein 1"""	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.133delC	14.37:g.39583642delC	ENSP00000308533:p.Pro46fs		38653393	NM_001009183	B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	Frame_Shift_Del	DEL	ENST00000308317.6	37	CCDS9669.1																																																																																				0.642	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276730.2		
ARID4A	5926	broad.mit.edu	37	14	58832898	58832898	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr14:58832898delA	ENST00000355431.3	+	22	3846	c.3473delA	c.(3472-3474)gaafs	p.E1158fs	ARID4A_ENST00000348476.3_Intron|ARID4A_ENST00000395168.3_Intron|ARID4A_ENST00000431317.2_Intron	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1158					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.K1159fs*19(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						AAACACAGAGAAAAACATCCG	0.383																																					p.E1158fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3473delA	14						.						116.0	123.0	121.0					14																	58832898		2202	4300	6502	57902651	SO:0001589	frameshift_variant	5926	exon22			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3473delA	14.37:g.58832898delA	ENSP00000347602:p.Glu1158fs		57902651	NM_002892	Q15991|Q15992|Q15993	Frame_Shift_Del	DEL	ENST00000355431.3	37	CCDS9732.1																																																																																				0.383	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001	
IL17RA	23765	broad.mit.edu	37	22	17590338	17590338	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:17590338C>T	ENST00000319363.6	+	13	2362	c.2229C>T	c.(2227-2229)gaC>gaT	p.D743D		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	743					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)	p.D743D(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TTCCAGAGGACGTGAGGGAGC	0.657																																					p.D743D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2229T	22						.						25.0	25.0	25.0					22																	17590338		2202	4299	6501	15970338	SO:0001819	synonymous_variant	23765	exon13			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.2229C>T	22.37:g.17590338C>T			15970338	NM_014339	O43844|Q20WK1	Silent	SNP	ENST00000319363.6	37	CCDS13739.1																																																																																				0.657	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339	
MICAL3	57553	broad.mit.edu	37	22	18363979	18363979	+	Intron	SNP	C	C	T	rs375394721		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:18363979C>T	ENST00000441493.2	-	16	2594				MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000429452.1_Missense_Mutation_p.G778S|MICAL3_ENST00000585038.1_Missense_Mutation_p.G778S|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000383094.3_Intron	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.G778S(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ACCTGCTGGCCGCCATGTGCC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		19004	0.0		0.001	False		,,,				2504	0.0				p.G778S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2332A	22						.						116.0	120.0	118.0					22																	18363979		1568	3582	5150	16743979	SO:0001627	intron_variant	57553	exon17			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2241+4664G>A	22.37:g.18363979C>T			16743979	NM_001136004	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	4.619	0.115003	0.08831	.	.	ENSG00000093100	ENST00000429452	T	0.64085	-0.08	5.56	-11.1	0.00147	.	.	.	.	.	T	0.36799	0.0980	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33059	-0.9883	8	0.13108	T	0.6	.	13.2472	0.60029	0.0:0.5625:0.2749:0.1626	.	778	B2RXJ5	.	S	778	ENSP00000414846:G778S	ENSP00000414846:G778S	G	-	1	0	XXbac-B461K10.4	16743979	0.000000	0.05858	0.000000	0.03702	0.234000	0.25298	-1.526000	0.02229	-3.357000	0.00180	-1.004000	0.02495	GGC		0.557	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		
ZNF74	7625	broad.mit.edu	37	22	20759894	20759894	+	Missense_Mutation	SNP	G	G	A	rs372712683		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:20759894G>A	ENST00000400451.2	+	5	1085	c.571G>A	c.(571-573)Gtt>Att	p.V191I	ZNF74_ENST00000356671.5_Missense_Mutation_p.V191I|ZNF74_ENST00000405993.1_Missense_Mutation_p.V159I|ZNF74_ENST00000403682.3_Missense_Mutation_p.R162H|ZNF74_ENST00000357502.5_Missense_Mutation_p.R196H	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	191					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V191I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCAGCAACGCGTTCCCGAGGG	0.667																																					p.V191I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G571A	22						.	G	ILE/VAL	1,3939		0,1,1969	30.0	36.0	34.0		571	-3.0	0.0	22		34	0,8286		0,0,4143	no	missense	ZNF74	NM_003426.2	29	0,1,6112	AA,AG,GG		0.0,0.0254,0.0082	benign	191/645	20759894	1,12225	1970	4143	6113	19089894	SO:0001583	missense	7625	exon5			X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.571G>A	22.37:g.20759894G>A	ENSP00000383301:p.Val191Ile		19089894	NM_003426	B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	CCDS42982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.084|9.084	1.000152|1.000152	0.19121|0.19121	2.54E-4|2.54E-4	0.0|0.0	ENSG00000185252|ENSG00000185252	ENST00000403682;ENST00000357502|ENST00000400451;ENST00000356671;ENST00000405993	.|T;T;T	.|0.05513	.|3.55;3.55;3.43	3.85|3.85	-3.05|-3.05	0.05396|0.05396	.|.	.|1.938800	.|0.02813	.|N	.|0.124630	T|T	0.02380|0.02380	0.0073|0.0073	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.37865|0.37865	-0.9687|-0.9687	6|10	0.87932|0.02654	D|T	0|1	-0.7992|-0.7992	5.3392|5.3392	0.15974|0.15974	0.512:0.2716:0.2164:0.0|0.512:0.2716:0.2164:0.0	.|.	.|191	.|Q16587	.|ZNF74_HUMAN	H|I	162;196|191;191;159	.|ENSP00000383301:V191I;ENSP00000349098:V191I;ENSP00000385855:V159I	ENSP00000350101:R196H|ENSP00000349098:V191I	R|V	+|+	2|1	0|0	ZNF74|ZNF74	19089894|19089894	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.135000|-0.135000	0.10420|0.10420	-0.695000|-0.695000	0.05105|0.05105	-0.878000|-0.878000	0.02970|0.02970	CGT|GTT		0.667	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426	
BCR	613	broad.mit.edu	37	22	23626224	23626224	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:23626224C>T	ENST00000305877.8	+	9	2927	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	BCR_ENST00000359540.3_Missense_Mutation_p.R726C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	726	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R726C(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCGCAAGCTGCGCCACGTCTT	0.652			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																p.R726C			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2176T	22						.						37.0	34.0	35.0					22																	23626224		2202	4299	6501	21956224	SO:0001583	missense	613	exon9				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2176C>T	22.37:g.23626224C>T	ENSP00000303507:p.Arg726Cys		21956224	NM_021574	P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.391746	0.62066	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149;ENST00000427791	T;T;T	0.47528	0.84;0.84;1.68	5.64	4.63	0.57726	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	M	0.84683	2.71	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	0.77101	-0.2712	10	0.87932	D	0	.	13.9834	0.64319	0.0:0.9273:0.0:0.0727	.	315;391;344;726;726	B4E065;Q12843;Q12844;P11274-2;P11274	.;.;.;.;BCR_HUMAN	C	726;726;391;210	ENSP00000303507:R726C;ENSP00000352535:R726C;ENSP00000396531:R210C	ENSP00000303507:R726C	R	+	1	0	BCR	21956224	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	7.562000	0.82300	1.546000	0.49388	-0.136000	0.14681	CGC		0.652	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327	
CABIN1	23523	broad.mit.edu	37	22	24561508	24561508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:24561508C>T	ENST00000398319.2	+	31	5306	c.4921C>T	c.(4921-4923)Cga>Tga	p.R1641*	CABIN1_ENST00000405822.2_Nonsense_Mutation_p.R1562*|CABIN1_ENST00000263119.5_Nonsense_Mutation_p.R1641*|CABIN1_ENST00000337989.7_Nonsense_Mutation_p.R66*	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1641					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R1641*(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAGTATCTGCGAGATGCTGA	0.612																																					p.R1641X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4921T	22						.						83.0	59.0	67.0					22																	24561508		2201	4300	6501	22891508	SO:0001587	stop_gained	23523	exon31			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4921C>T	22.37:g.24561508C>T	ENSP00000381364:p.Arg1641*		22891508	NM_001199281	G5E9F3|Q6PHY0|Q9Y460	Nonsense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	38	7.186191	0.98121	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	.	.	.	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5994	0.84807	0.0:1.0:0.0:0.0	.	.	.	.	X	1641;1562;1641;66;66	.	ENSP00000263119:R1641X	R	+	1	2	CABIN1	22891508	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.701000	0.61810	2.240000	0.73641	0.650000	0.86243	CGA		0.612	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	
TRIOBP	11078	broad.mit.edu	37	22	38109265	38109265	+	Silent	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:38109265C>A	ENST00000406386.3	+	5	558	c.303C>A	c.(301-303)gcC>gcA	p.A101A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	101					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.A101A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACAGCTGCCCCCAGGAGCA	0.637																																					p.A101A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C303A	22						.						40.0	48.0	46.0					22																	38109265		1913	4134	6047	36439211	SO:0001819	synonymous_variant	11078	exon5			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.303C>A	22.37:g.38109265C>A			36439211	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	CCDS43015.1																																																																																				0.637	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
MICALL1	85377	broad.mit.edu	37	22	38308394	38308394	+	Missense_Mutation	SNP	G	G	A	rs114708609	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:38308394G>A	ENST00000215957.6	+	3	358	c.232G>A	c.(232-234)Gct>Act	p.A78T		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	78	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.A78T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GGGGATCCCCGCTCTCCTGGA	0.592													G|||	6	0.00119808	0.0038	0.0	5008	,	,		17461	0.001		0.0	False		,,,				2504	0.0				p.A78T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G232A	22						.	G	THR/ALA	6,4400	11.4+/-27.6	0,6,2197	80.0	71.0	74.0		232	4.7	1.0	22	dbSNP_132	74	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MICALL1	NM_033386.3	58	0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538	probably-damaging	78/864	38308394	7,12999	2203	4300	6503	36638340	SO:0001583	missense	85377	exon3			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.232G>A	22.37:g.38308394G>A	ENSP00000215957:p.Ala78Thr		36638340	NM_033386	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	CCDS13961.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	35	5.488600	0.96323	0.001362	1.16E-4	ENSG00000100139	ENST00000215957	D	0.94793	-3.52	4.69	4.69	0.59074	Calponin homology domain (5);	0.310182	0.22740	N	0.056202	D	0.96935	0.8999	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97262	0.9905	10	0.66056	D	0.02	.	18.2487	0.89996	0.0:0.0:1.0:0.0	.	78	Q8N3F8	MILK1_HUMAN	T	78	ENSP00000215957:A78T	ENSP00000215957:A78T	A	+	1	0	MICALL1	36638340	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.604000	0.82830	2.609000	0.88269	0.632000	0.83419	GCT		0.592	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386	
SOX10	6663	broad.mit.edu	37	22	38374042	38374042	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:38374042G>A	ENST00000396884.2	-	3	811	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	SOX10_ENST00000470555.1_5'Flank|SOX10_ENST00000360880.2_Missense_Mutation_p.R177W|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	177					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)	p.R177W(1)		NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TTCTTCCGCCGCCTGGGCTGG	0.667																																					p.R177W	Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C529T	22						.						29.0	27.0	28.0					22																	38374042		2202	4300	6502	36703988	SO:0001583	missense	6663	exon3				CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.529C>T	22.37:g.38374042G>A	ENSP00000380093:p.Arg177Trp		36703988	NM_006941	B4DV62|Q6FHW7	Missense_Mutation	SNP	ENST00000396884.2	37	CCDS13964.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348366	0.61183	.	.	ENSG00000100146	ENST00000396884;ENST00000360880;ENST00000416937;ENST00000427770	D;D;D	0.99176	-5.52;-5.52;-5.42	4.24	2.05	0.26809	High mobility group, HMG1/HMG2 (1);	0.000000	0.85682	D	0.000000	D	0.99236	0.9734	M	0.88377	2.95	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.99780	1.1027	10	0.87932	D	0	.	12.7189	0.57131	0.0:0.0:0.3476:0.6524	.	177	P56693	SOX10_HUMAN	W	177	ENSP00000380093:R177W;ENSP00000354130:R177W;ENSP00000414853:R177W	ENSP00000354130:R177W	R	-	1	2	SOX10	36703988	0.996000	0.38824	0.991000	0.47740	0.782000	0.44232	0.254000	0.18314	0.169000	0.19679	0.455000	0.32223	CGG		0.667	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941	
CBX7	23492	broad.mit.edu	37	22	39530443	39530443	+	Silent	SNP	G	G	A	rs376032300		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:39530443G>A	ENST00000216133.5	-	5	766	c.561C>T	c.(559-561)ggC>ggT	p.G187G	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Silent_p.G94G	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	187					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sebaceous gland development (GO:0048733)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|single-stranded RNA binding (GO:0003727)	p.G187G(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					GCTCCCACTCGCCAGCCGCCT	0.682																																					p.G187G	GBM(46;845 904 3560 9866 23971)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C561T	22						.	G		0,4280		0,0,2140	12.0	16.0	15.0		561	3.5	1.0	22		15	1,8475		0,1,4237	no	coding-synonymous	CBX7	NM_175709.3		0,1,6377	AA,AG,GG		0.0118,0.0,0.0078		187/252	39530443	1,12755	2140	4238	6378	37860389	SO:0001819	synonymous_variant	23492	exon5				CCDS13986.1	22q13.1	2010-07-06			ENSG00000100307	ENSG00000100307			1557	protein-coding gene	gene with protein product		608457					Standard	NM_175709		Approved		uc003axb.3	O95931	OTTHUMG00000150418	ENST00000216133.5:c.561C>T	22.37:g.39530443G>A			37860389	NM_175709	Q86T17	Silent	SNP	ENST00000216133.5	37	CCDS13986.1																																																																																				0.682	CBX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318020.1	NM_175709	
TNRC6B	23112	broad.mit.edu	37	22	40669466	40669466	+	Silent	SNP	C	C	T	rs370055398		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:40669466C>T	ENST00000454349.2	+	7	3214	c.3003C>T	c.(3001-3003)gaC>gaT	p.D1001D	TNRC6B_ENST00000301923.9_Silent_p.D254D|TNRC6B_ENST00000402203.1_Silent_p.D254D|TNRC6B_ENST00000335727.9_Silent_p.D948D	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1001					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)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|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 translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D1015D(1)		breast(1)	1						GGGAGAGTGACGGGCCAGTCA	0.488																																					p.D948D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2844T	22						.	C	,,	0,3832		0,0,1916	23.0	27.0	25.0		762,3003,2844	-1.5	1.0	22		25	1,8253		0,1,4126	no	coding-synonymous,coding-synonymous,coding-synonymous	TNRC6B	NM_001024843.1,NM_001162501.1,NM_015088.2	,,	0,1,6042	TT,TC,CC		0.0121,0.0,0.0083	,,	254/1030,1001/1834,948/1724	40669466	1,12085	1916	4127	6043	38999412	SO:0001819	synonymous_variant	23112	exon6			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.3003C>T	22.37:g.40669466C>T			38999412	NM_015088	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352675	0.24512	0.0	1.21E-4	ENSG00000100354	ENST00000446273	.	.	.	6.04	-1.54	0.08584	.	.	.	.	.	T	0.55146	0.1902	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51965	-0.8638	4	.	.	.	-13.852	9.9474	0.41618	0.0:0.285:0.0:0.715	.	.	.	.	M	744	.	.	T	+	2	0	TNRC6B	38999412	0.869000	0.29996	0.997000	0.53966	0.998000	0.95712	-0.071000	0.11505	-0.053000	0.13289	0.563000	0.77884	ACG		0.488	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding			
PMM1	5372	broad.mit.edu	37	22	41980043	41980043	+	Missense_Mutation	SNP	G	G	A	rs190292776		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:41980043G>A	ENST00000216259.7	-	5	478	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	132					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)	p.R132W(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						ATGCCATTCCGGAACTCGATG	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17387	0.0		0.0	False		,,,				2504	0.0				p.R132W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C394T	22						.						97.0	87.0	90.0					22																	41980043		2203	4300	6503	40309989	SO:0001583	missense	5372	exon5				CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.394C>T	22.37:g.41980043G>A	ENSP00000216259:p.Arg132Trp		40309989	NM_002676	A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	CCDS14020.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.8	4.674186	0.88445	.	.	ENSG00000100417	ENST00000216259	D	0.99239	-5.61	5.41	5.41	0.78517	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99616	0.9860	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97896	1.0300	10	0.87932	D	0	-17.0047	19.1954	0.93686	0.0:0.0:1.0:0.0	.	132	Q92871	PMM1_HUMAN	W	132	ENSP00000216259:R132W	ENSP00000216259:R132W	R	-	1	2	PMM1	40309989	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.266000	0.72540	2.537000	0.85549	0.563000	0.77884	CGG		0.592	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676	
TBC1D22A	25771	broad.mit.edu	37	22	47189586	47189586	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:47189586G>A	ENST00000337137.4	+	3	474	c.308G>A	c.(307-309)cGt>cAt	p.R103H	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R56H|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R56H|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R103H|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R84H	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	103							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)	p.R103H(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)		CGTGTGCTGCGTAACCACAGC	0.711																																					p.R103H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G308A	22						.						34.0	30.0	31.0					22																	47189586		2203	4300	6503	45568250	SO:0001583	missense	25771	exon3			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.308G>A	22.37:g.47189586G>A	ENSP00000336724:p.Arg103His		45568250	NM_014346	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145264	0.37825	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.45668	1.9;0.89;1.92;1.9;1.9	4.66	1.27	0.21489	.	0.265374	0.38897	N	0.001538	T	0.28896	0.0717	L	0.44542	1.39	0.34454	D	0.700978	P;D;P;P	0.54397	0.887;0.966;0.944;0.887	B;B;B;B	0.41988	0.255;0.372;0.255;0.255	T	0.37572	-0.9700	10	0.36615	T	0.2	-4.3567	5.4237	0.16413	0.4995:0.0:0.5005:0.0	.	103;84;103;103	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	H	103;56;103;84;56	ENSP00000336724:R103H;ENSP00000370383:R56H;ENSP00000384036:R103H;ENSP00000347932:R84H;ENSP00000385634:R56H	ENSP00000336724:R103H	R	+	2	0	TBC1D22A	45568250	1.000000	0.71417	0.654000	0.29608	0.267000	0.26476	3.311000	0.51919	0.582000	0.29556	0.511000	0.50034	CGT		0.711	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346	
ZBED4	9889	broad.mit.edu	37	22	50278437	50278437	+	Missense_Mutation	SNP	C	C	T	rs533958242		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:50278437C>T	ENST00000216268.5	+	2	1604	c.1127C>T	c.(1126-1128)cCa>cTa	p.P376L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	376						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P376L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCCTCGTCTCCAGTAAAGCCG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17467	0.001		0.0	False		,,,				2504	0.0				p.P376L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1127T	22						.						51.0	54.0	53.0					22																	50278437		2203	4300	6503	48664441	SO:0001583	missense	9889	exon2			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1127C>T	22.37:g.50278437C>T	ENSP00000216268:p.Pro376Leu		48664441	NM_014838	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595999	0.46318	.	.	ENSG00000100426	ENST00000216268	T	0.54675	0.56	5.18	4.17	0.49024	.	0.127623	0.53938	D	0.000054	T	0.50188	0.1601	L	0.56769	1.78	0.54753	D	0.999983	B	0.18461	0.028	B	0.17433	0.018	T	0.53760	-0.8393	10	0.87932	D	0	-2.3307	13.6742	0.62443	0.0:0.9262:0.0:0.0738	.	376	O75132	ZBED4_HUMAN	L	376	ENSP00000216268:P376L	ENSP00000216268:P376L	P	+	2	0	ZBED4	48664441	0.397000	0.25270	0.023000	0.16930	0.002000	0.02628	4.061000	0.57485	1.427000	0.47276	0.655000	0.94253	CCA		0.632	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838	
SUN2	25777	broad.mit.edu	37	22	39147013	39147015	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:39147013_39147015delCTC	ENST00000405510.1	-	5	670_672	c.312_314delGAG	c.(310-315)aggaga>aga	p.104_105RR>R	SUN2_ENST00000406622.1_In_Frame_Del_p.104_105RR>R|SUN2_ENST00000411587.2_Intron|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000216064.4_In_Frame_Del_p.104_105RR>R|SUN2_ENST00000405018.1_In_Frame_Del_p.104_105RR>R	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	104	LMNA-binding. {ECO:0000250}.|Poly-Arg.|Ser-rich.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)	p.R105delR(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						ACCCGTGCCTCTCCTCCTCCGCA	0.655																																					p.104_105del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.312_314del	22						.																																			37476961	SO:0001651	inframe_deletion	25777	exon4			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.312_314delGAG	22.37:g.39147019_39147021delCTC	ENSP00000385740:p.Arg105del		37476959	NM_015374	B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	In_Frame_Del	DEL	ENST00000405510.1	37	CCDS13978.1																																																																																				0.655	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332	
ARHGAP8	23779	broad.mit.edu	37	22	45241179	45241179	+	Frame_Shift_Del	DEL	C	C	-	rs147582478	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:45241179delC	ENST00000389774.2	+	9	861	c.720delC	c.(718-720)atcfs	p.I240fs	PRR5-ARHGAP8_ENST00000361473.5_Frame_Shift_Del_p.I340fs|ARHGAP8_ENST00000356099.6_Frame_Shift_Del_p.I209fs|ARHGAP8_ENST00000336963.4_Frame_Shift_Del_p.I209fs|ARHGAP8_ENST00000389773.5_Frame_Shift_Del_p.I331fs|ARHGAP8_ENST00000517296.3_Frame_Shift_Del_p.I419fs|PRR5-ARHGAP8_ENST00000352766.7_Frame_Shift_Del_p.I419fs	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	240	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.P242fs*3(1)|p.P247fs*3(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		GCGAACTCATCCCCCCTGTGC	0.532																																					p.I331fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.993delC	22						.						77.0	75.0	76.0					22																	45241179		2203	4300	6503	43619843	SO:0001589	frameshift_variant	553158	exon11			AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.720delC	22.37:g.45241179delC	ENSP00000374424:p.Ile240fs		43619843	NM_181334	A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Frame_Shift_Del	DEL	ENST00000389774.2	37	CCDS33664.1																																																																																				0.532	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701	
RIBC2	26150	broad.mit.edu	37	22	45813815	45813815	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:45813815delA	ENST00000342894.3	+	3	740	c.326delA	c.(325-327)caafs	p.Q109fs	RIBC2_ENST00000538017.1_Frame_Shift_Del_p.Q177fs			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	109						nucleus (GO:0005634)		p.K110fs*36(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGTGCTGAACAAAAATGCGCA	0.423																																					p.K177fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.529delA	22						.						28.0	29.0	29.0					22																	45813815		2202	4294	6496	44192479	SO:0001589	frameshift_variant	26150	exon3			AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 11"""	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.326delA	22.37:g.45813815delA	ENSP00000342529:p.Gln109fs		44192479	NM_015653	Q6ICD0|Q9Y413	Frame_Shift_Del	DEL	ENST00000342894.3	37																																																																																					0.423	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653	
ZBED4	9889	broad.mit.edu	37	22	50280645	50280645	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr22:50280645C>T	ENST00000216268.5	+	2	3812	c.3335C>T	c.(3334-3336)cCg>cTg	p.P1112L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1112						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1112L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCGTCCTGGCCGGGGCTGTCC	0.592																																					p.P1112L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3335T	22						.						55.0	50.0	51.0					22																	50280645		2203	4300	6503	48666649	SO:0001583	missense	9889	exon2			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.3335C>T	22.37:g.50280645C>T	ENSP00000216268:p.Pro1112Leu		48666649	NM_014838	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512889	0.64522	.	.	ENSG00000100426	ENST00000216268	T	0.57907	0.37	5.17	5.17	0.71159	HAT dimerisation (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.80008	0.4545	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84628	0.0688	10	0.72032	D	0.01	-34.8119	18.861	0.92271	0.0:1.0:0.0:0.0	.	1112	O75132	ZBED4_HUMAN	L	1112	ENSP00000216268:P1112L	ENSP00000216268:P1112L	P	+	2	0	ZBED4	48666649	1.000000	0.71417	0.963000	0.40424	0.245000	0.25701	7.309000	0.78937	2.703000	0.92315	0.650000	0.86243	CCG		0.592	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838	
DNMT1	1786	broad.mit.edu	37	19	10248650	10248650	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:10248650C>T	ENST00000340748.4	-	35	4338	c.4103G>A	c.(4102-4104)cGa>cAa	p.R1368Q	DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000359526.4_Missense_Mutation_p.R1384Q|DNMT1_ENST00000540357.1_Missense_Mutation_p.R1368Q			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1368	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R1368Q(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CATCGTGTCTCGCACCGTGAT	0.622																																					p.R1384Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4151A	19						.						45.0	36.0	39.0					19																	10248650		2203	4300	6503	10109650	SO:0001583	missense	1786	exon36			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4103G>A	19.37:g.10248650C>T	ENSP00000345739:p.Arg1368Gln		10109650	NM_001130823	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787654	0.90367	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.84223	-1.82;-1.82;-1.82	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.90652	0.7068	M	0.76328	2.33	0.80722	D	1	D;D;D	0.57571	0.975;0.975;0.98	P;P;P	0.58077	0.742;0.742;0.832	D	0.90854	0.4733	10	0.49607	T	0.09	-26.3197	17.6482	0.88154	0.0:1.0:0.0:0.0	.	1368;1384;1368	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	Q	1384;1368;1368;1236	ENSP00000352516:R1384Q;ENSP00000440457:R1368Q;ENSP00000345739:R1368Q	ENSP00000345739:R1368Q	R	-	2	0	DNMT1	10109650	1.000000	0.71417	0.995000	0.50966	0.338000	0.28826	7.475000	0.81041	2.446000	0.82766	0.655000	0.94253	CGA		0.622	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
DNMT1	1786	broad.mit.edu	37	19	10291064	10291064	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:10291064C>T	ENST00000340748.4	-	4	642	c.407G>A	c.(406-408)cGc>cAc	p.R136H	DNMT1_ENST00000359526.4_Missense_Mutation_p.R136H|DNMT1_ENST00000540357.1_Missense_Mutation_p.R136H			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	136	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R136H(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCTGGGCGTGCGAGGTTTGGA	0.502																																					p.R136H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G407A	19						.						81.0	81.0	81.0					19																	10291064		2203	4300	6503	10152064	SO:0001583	missense	1786	exon4			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.407G>A	19.37:g.10291064C>T	ENSP00000345739:p.Arg136His		10152064	NM_001130823	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	c	16.04	3.009397	0.54361	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748	T;T;T	0.29917	1.84;1.55;1.55	5.33	1.97	0.26223	.	0.578486	0.16795	N	0.199240	T	0.16214	0.0390	L	0.34521	1.04	0.09310	N	1	P;P;P	0.42123	0.771;0.771;0.661	B;B;B	0.34038	0.174;0.174;0.084	T	0.16778	-1.0391	10	0.12766	T	0.61	.	7.8565	0.29485	0.0:0.7169:0.1333:0.1498	.	136;136;136	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	H	136	ENSP00000352516:R136H;ENSP00000440457:R136H;ENSP00000345739:R136H	ENSP00000345739:R136H	R	-	2	0	DNMT1	10152064	0.000000	0.05858	0.001000	0.08648	0.536000	0.34869	0.476000	0.22180	0.237000	0.21200	0.650000	0.86243	CGC		0.502	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
ICAM5	7087	broad.mit.edu	37	19	10404764	10404764	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:10404764T>C	ENST00000221980.4	+	8	1823	c.1760T>C	c.(1759-1761)gTg>gCg	p.V587A		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	587	Ig-like C2-type 7.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.V587A(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGGACATGGGTGGAAGGATCT	0.652																																					p.V587A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1760C	19						.						53.0	61.0	59.0					19																	10404764		2191	4269	6460	10265764	SO:0001583	missense	7087	exon8			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1760T>C	19.37:g.10404764T>C	ENSP00000221980:p.Val587Ala		10265764	NM_003259	Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.523969	0.27299	.	.	ENSG00000105376	ENST00000221980	T	0.74315	-0.83	4.69	4.69	0.59074	Immunoglobulin-like fold (1);	0.000000	0.43110	D	0.000605	T	0.63319	0.2501	L	0.49350	1.555	0.34208	D	0.673962	B	0.30406	0.278	B	0.30179	0.112	T	0.63510	-0.6621	10	0.07175	T	0.84	-16.5938	10.4509	0.44522	0.0:0.0:0.0:1.0	.	587	Q9UMF0	ICAM5_HUMAN	A	587	ENSP00000221980:V587A	ENSP00000221980:V587A	V	+	2	0	ICAM5	10265764	1.000000	0.71417	0.997000	0.53966	0.311000	0.27955	2.442000	0.44873	1.968000	0.57251	0.448000	0.29417	GTG		0.652	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259	
SMARCA4	6597	broad.mit.edu	37	19	11114031	11114031	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:11114031G>A	ENST00000429416.3	+	14	2240	c.1959G>A	c.(1957-1959)ccG>ccA	p.P653P	SMARCA4_ENST00000541122.2_Silent_p.P653P|SMARCA4_ENST00000344626.4_Silent_p.P653P|SMARCA4_ENST00000589677.1_Silent_p.P653P|SMARCA4_ENST00000358026.2_Silent_p.P653P|SMARCA4_ENST00000413806.3_Silent_p.P653P|SMARCA4_ENST00000590574.1_Silent_p.P653P|SMARCA4_ENST00000444061.3_Silent_p.P653P|SMARCA4_ENST00000450717.3_Silent_p.P653P	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	653					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P653P(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AAGTAGCTCCGAGGTCTGATA	0.468			"""F, N, Mis"""		NSCLC																																p.P653P			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	.	.	2	Unknown(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.G1959A	19						.						146.0	142.0	143.0					19																	11114031		2203	4300	6503	10975031	SO:0001819	synonymous_variant	6597	exon13			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1959G>A	19.37:g.11114031G>A			10975031	NM_003072	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	CCDS12253.1																																																																																				0.468	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
DOCK6	57572	broad.mit.edu	37	19	11326115	11326115	+	Missense_Mutation	SNP	G	G	A	rs550858597		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:11326115G>A	ENST00000294618.7	-	32	4065	c.4054C>T	c.(4054-4056)Cgc>Tgc	p.R1352C	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.R691C	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1352					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R1352C(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TTCCGCCAGCGCACATTCTCC	0.562																																					p.R1352C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4054T	19						.						53.0	53.0	53.0					19																	11326115		2036	4181	6217	11187115	SO:0001583	missense	57572	exon32				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4054C>T	19.37:g.11326115G>A	ENSP00000294618:p.Arg1352Cys		11187115	NM_020812	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803212	0.70682	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.54479	0.57;0.57	5.68	4.57	0.56435	.	0.000000	0.64402	D	0.000001	T	0.74635	0.3742	M	0.84683	2.71	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.70935	0.971;0.762	T	0.79472	-0.1789	10	0.87932	D	0	-12.6499	16.3511	0.83208	0.0:0.0:0.859:0.141	.	691;1352	C9IZV6;Q96HP0	.;DOCK6_HUMAN	C	1352;691	ENSP00000294618:R1352C;ENSP00000321556:R691C	ENSP00000294618:R1352C	R	-	1	0	DOCK6	11187115	1.000000	0.71417	0.955000	0.39395	0.597000	0.36814	3.301000	0.51842	2.683000	0.91414	0.591000	0.81541	CGC		0.562	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812	
CIRBP	1153	broad.mit.edu	37	19	1270937	1270937	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:1270937C>T	ENST00000588030.1	+	2	265	c.5C>T	c.(4-6)gCa>gTa	p.A2V	CIRBP_ENST00000320936.5_Missense_Mutation_p.A2V|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000591935.1_Missense_Mutation_p.A2V|CIRBP_ENST00000588090.1_Missense_Mutation_p.A2V|CIRBP_ENST00000586773.1_Missense_Mutation_p.A2V|CIRBP_ENST00000444172.2_5'UTR|CIRBP_ENST00000413636.2_Missense_Mutation_p.A2V|CIRBP_ENST00000588230.1_Missense_Mutation_p.A2V|CIRBP_ENST00000589686.1_Missense_Mutation_p.A2V|CIRBP_ENST00000587323.1_Missense_Mutation_p.A2V|CIRBP_ENST00000587896.1_Missense_Mutation_p.A2V|CIRBP_ENST00000589710.1_Missense_Mutation_p.A2V|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000585630.1_Missense_Mutation_p.A2V|CIRBP_ENST00000586472.1_Missense_Mutation_p.A2V|CIRBP_ENST00000589235.1_Missense_Mutation_p.A2V|CIRBP_ENST00000589660.1_Missense_Mutation_p.A2V			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	2					mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)	p.A2V(1)		endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		gccgccatggcatcagatgaa	0.478																																					p.A2V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5T	19						.						169.0	176.0	174.0					19																	1270937		2203	4300	6503	1221937	SO:0001583	missense	1153	exon2			D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.5C>T	19.37:g.1270937C>T	ENSP00000468788:p.Ala2Val		1221937	NM_001280	B3KT17|B4E2X2	Missense_Mutation	SNP	ENST00000588030.1	37	CCDS12059.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754755	0.49362	.	.	ENSG00000099622	ENST00000320936;ENST00000413636	T;T	0.70282	0.18;-0.47	4.6	3.57	0.40892	.	0.218004	0.38326	U	0.001722	T	0.66906	0.2837	L	0.44542	1.39	0.80722	D	1	P;P;P	0.48998	0.863;0.918;0.846	P;P;B	0.46758	0.526;0.526;0.283	T	0.69390	-0.5158	10	0.87932	D	0	-8.6916	11.3577	0.49625	0.0:0.9098:0.0:0.0902	.	2;2;2	B4E2X2;D6W5Y5;Q14011	.;.;CIRBP_HUMAN	V	2	ENSP00000322887:A2V;ENSP00000412831:A2V	ENSP00000322887:A2V	A	+	2	0	CIRBP	1221937	1.000000	0.71417	0.859000	0.33776	0.090000	0.18270	4.957000	0.63652	0.937000	0.37394	-0.251000	0.11542	GCA		0.478	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449969.1	NM_001280	
SWSAP1	126074	broad.mit.edu	37	19	11486276	11486276	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:11486276C>A	ENST00000312423.2	+	2	333	c.274C>A	c.(274-276)Ctt>Att	p.L92I	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	92					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)	p.L92I(1)									AGCCCCCTCCCTTCTGCTGCT	0.602																																					p.L92I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C274A	19						.						70.0	82.0	78.0					19																	11486276		2203	4300	6503	11347276	SO:0001583	missense	126074	exon2			AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"""zinc finger, SWIM-type containing 7 associated protein 1"", ""SWS1-associated protein 1"""	614536	"""chromosome 19 open reading frame 39"""	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.274C>A	19.37:g.11486276C>A	ENSP00000310008:p.Leu92Ile		11347276	NM_175871	Q8NAM1	Missense_Mutation	SNP	ENST00000312423.2	37	CCDS12259.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565383	0.86439	.	.	ENSG00000173928	ENST00000312423	D	0.86497	-2.13	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000005	D	0.92899	0.7741	M	0.76002	2.32	0.44816	D	0.997825	D	0.76494	0.999	D	0.87578	0.998	D	0.93298	0.6674	10	0.59425	D	0.04	-8.0825	15.6006	0.76623	0.0:1.0:0.0:0.0	.	92	Q6NVH7	CS039_HUMAN	I	92	ENSP00000310008:L92I	ENSP00000310008:L92I	L	+	1	0	C19orf39	11347276	1.000000	0.71417	0.588000	0.28705	0.983000	0.72400	4.473000	0.60196	2.419000	0.82065	0.655000	0.94253	CTT		0.602	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871	
ZNF44	51710	broad.mit.edu	37	19	12384634	12384634	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:12384634A>G	ENST00000356109.5	-	5	698	c.580T>C	c.(580-582)Tgt>Cgt	p.C194R	ZNF44_ENST00000355684.5_Missense_Mutation_p.C146R	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C146R(1)		ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CCTTTCCCACACTGCTTATGT	0.423																																					p.C146R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T436C	19						.						123.0	123.0	123.0					19																	12384634		2198	4294	6492	12245634	SO:0001583	missense	51710	exon4			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.580T>C	19.37:g.12384634A>G	ENSP00000348419:p.Cys194Arg		12245634	NM_016264	B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	A	6.160	0.397803	0.11696	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.59224	0.28;0.28;3.96	0.724	-0.498	0.12019	Zinc finger, C2H2 (1);	.	.	.	.	T	0.53206	0.1782	M	0.79475	2.455	.	.	.	B;B	0.15141	0.005;0.012	B;B	0.15484	0.009;0.013	T	0.53351	-0.8451	8	0.59425	D	0.04	.	5.7514	0.18148	0.7264:0.2736:0.0:0.0	.	194;146	P15621;F8W7T7	ZNF44_HUMAN;.	R	194;194;146;146	ENSP00000377008:C194R;ENSP00000348419:C194R;ENSP00000347910:C146R	ENSP00000347910:C146R	C	-	1	0	ZNF44	12245634	0.935000	0.31712	0.016000	0.15963	0.048000	0.14542	2.714000	0.47202	-0.297000	0.08934	-0.940000	0.02684	TGT		0.423	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264	
ZNF564	163050	broad.mit.edu	37	19	12637528	12637528	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:12637528C>T	ENST00000339282.7	-	4	1590	c.1394G>A	c.(1393-1395)cGa>cAa	p.R465Q	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	465					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.R465Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TTCATGTGTTCGGACAGAACT	0.368																																					p.R465Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1394A	19						.						157.0	162.0	160.0					19																	12637528		2193	4297	6490	12498528	SO:0001583	missense	163050	exon4			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1394G>A	19.37:g.12637528C>T	ENSP00000340004:p.Arg465Gln		12498528	NM_144976	B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	8.036	0.762765	0.15914	.	.	ENSG00000249709	ENST00000339282	T	0.04275	3.66	1.71	-3.07	0.05363	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02970	0.0088	N	0.25647	0.755	0.09310	N	1	P	0.48294	0.908	B	0.38954	0.286	T	0.43734	-0.9373	9	0.21540	T	0.41	.	7.795	0.29141	0.0:0.563:0.0:0.437	.	465	Q8TBZ8	ZN564_HUMAN	Q	465	ENSP00000340004:R465Q	ENSP00000340004:R465Q	R	-	2	0	ZNF564	12498528	0.000000	0.05858	0.000000	0.03702	0.965000	0.64279	-1.025000	0.03600	-0.891000	0.03940	0.643000	0.83706	CGA		0.368	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976	
RNASEH2A	10535	broad.mit.edu	37	19	12918306	12918306	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:12918306G>A	ENST00000221486.4	+	4	491	c.397G>A	c.(397-399)Gtg>Atg	p.V133M		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	133					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.V133M(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GGACCAGGGCGTGAACGTCAC	0.493																																					p.V133M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G397A	19						.						130.0	113.0	119.0					19																	12918306		2203	4300	6503	12779306	SO:0001583	missense	10535	exon4			Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.397G>A	19.37:g.12918306G>A	ENSP00000221486:p.Val133Met		12779306	NM_006397	B2RCY1|Q96F11	Missense_Mutation	SNP	ENST00000221486.4	37	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396399	0.83011	.	.	ENSG00000104889	ENST00000221486	D	0.87887	-2.31	4.8	4.8	0.61643	Ribonuclease HII/HIII domain (1);Ribonuclease H-like (1);	0.067299	0.64402	D	0.000018	D	0.93148	0.7818	M	0.86864	2.845	0.80722	D	1	D	0.63880	0.993	P	0.60886	0.88	D	0.94013	0.7286	10	0.56958	D	0.05	-15.5002	15.3366	0.74260	0.0:0.0:1.0:0.0	.	133	O75792	RNH2A_HUMAN	M	133	ENSP00000221486:V133M	ENSP00000221486:V133M	V	+	1	0	RNASEH2A	12779306	1.000000	0.71417	0.983000	0.44433	0.927000	0.56198	8.500000	0.90498	2.194000	0.70268	0.505000	0.49811	GTG		0.493	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397	
MAST1	22983	broad.mit.edu	37	19	12978684	12978684	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:12978684G>A	ENST00000251472.4	+	20	2498	c.2459G>A	c.(2458-2460)cGc>cAc	p.R820H		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.R820H(1)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCCGGCTGCGCAGGCCTCCC	0.736																																					p.R820H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2459A	19						.						10.0	13.0	12.0					19																	12978684		2158	4244	6402	12839684	SO:0001583	missense	22983	exon20			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2459G>A	19.37:g.12978684G>A	ENSP00000251472:p.Arg820His		12839684	NM_014975		Missense_Mutation	SNP	ENST00000251472.4	37	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718773	0.68844	.	.	ENSG00000105613	ENST00000251472	T	0.66099	-0.19	4.13	4.13	0.48395	.	0.343569	0.22190	N	0.063388	T	0.63604	0.2525	L	0.42245	1.32	0.40590	D	0.981473	D	0.67145	0.996	P	0.53689	0.732	T	0.65290	-0.6204	10	0.44086	T	0.13	-26.8141	12.2539	0.54613	0.0:0.0:1.0:0.0	.	820	Q9Y2H9	MAST1_HUMAN	H	820	ENSP00000251472:R820H	ENSP00000251472:R820H	R	+	2	0	MAST1	12839684	0.991000	0.36638	1.000000	0.80357	0.944000	0.59088	2.389000	0.44407	2.031000	0.59945	0.549000	0.68633	CGC		0.736	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	
MAST1	22983	broad.mit.edu	37	19	12980054	12980054	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:12980054C>T	ENST00000251472.4	+	22	2987	c.2948C>T	c.(2947-2949)gCc>gTc	p.A983V		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.A983V(1)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACACTGCGTGCCATCCGTGTC	0.582																																					p.A983V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2948T	19						.						71.0	60.0	64.0					19																	12980054		2203	4300	6503	12841054	SO:0001583	missense	22983	exon22			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2948C>T	19.37:g.12980054C>T	ENSP00000251472:p.Ala983Val		12841054	NM_014975		Missense_Mutation	SNP	ENST00000251472.4	37	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228749	0.95173	.	.	ENSG00000105613	ENST00000251472	T	0.26660	1.72	4.71	4.71	0.59529	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	N	0.20685	0.6	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.32561	-0.9902	10	0.87932	D	0	-31.3311	15.5036	0.75719	0.0:1.0:0.0:0.0	.	983	Q9Y2H9	MAST1_HUMAN	V	983	ENSP00000251472:A983V	ENSP00000251472:A983V	A	+	2	0	MAST1	12841054	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.715000	0.84713	2.327000	0.79052	0.462000	0.41574	GCC		0.582	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	
IL27RA	9466	broad.mit.edu	37	19	14159807	14159807	+	Missense_Mutation	SNP	G	G	A	rs370071884		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:14159807G>A	ENST00000263379.2	+	9	1281	c.1156G>A	c.(1156-1158)Ggg>Agg	p.G386R		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	386	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)	p.G386R(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TTTCACTGTCGGGGTCCCCTA	0.532											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G386R	Colon(164;1849 1896 4443 37792 47834)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1156A	19						.	G	ARG/GLY	0,4406		0,0,2203	115.0	113.0	114.0		1156	4.0	0.9	19		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL27RA	NM_004843.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	386/637	14159807	1,13005	2203	4300	6503	14020807	SO:0001583	missense	9466	exon9			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1156G>A	19.37:g.14159807G>A	ENSP00000263379:p.Gly386Arg	693	14020807	NM_004843	A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673693	0.29693	0.0	1.16E-4	ENSG00000104998	ENST00000263379	T	0.62639	0.01	3.95	3.95	0.45737	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.43110	D	0.000602	T	0.73969	0.3655	M	0.70595	2.14	0.38511	D	0.948483	D	0.89917	1.0	D	0.77004	0.989	T	0.73017	-0.4115	10	0.23891	T	0.37	-6.2299	11.6998	0.51564	0.0:0.0:1.0:0.0	.	386	Q6UWB1	I27RA_HUMAN	R	386	ENSP00000263379:G386R	ENSP00000263379:G386R	G	+	1	0	IL27RA	14020807	0.998000	0.40836	0.909000	0.35828	0.004000	0.04260	4.167000	0.58209	2.209000	0.71365	0.448000	0.29417	GGG		0.532	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843	
CD97	976	broad.mit.edu	37	19	14515305	14515305	+	Silent	SNP	C	C	T	rs373067809		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:14515305C>T	ENST00000242786.5	+	13	1640	c.1560C>T	c.(1558-1560)aaC>aaT	p.N520N	CD97_ENST00000358600.3_Silent_p.N427N|CD97_ENST00000357355.3_Silent_p.N471N|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	520	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.N520N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCAGCAAGAACGGCAGCACCA	0.617																																					p.N471N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1413T	19						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	62.0	55.0	58.0		1413,1281,1560	-7.0	0.0	19		58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CD97	NM_001025160.2,NM_001784.4,NM_078481.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	471/787,427/743,520/836	14515305	1,13005	2203	4300	6503	14376305	SO:0001819	synonymous_variant	976	exon12				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1560C>T	19.37:g.14515305C>T			14376305	NM_001025160	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	CCDS32929.1																																																																																				0.617	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481	
OR7A17	26333	broad.mit.edu	37	19	14991800	14991800	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:14991800A>G	ENST00000327462.2	-	1	464	c.368T>C	c.(367-369)tTt>tCt	p.F123S		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F123S(1)		breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GATGGCCACAAACCGATCATA	0.507																																					p.F123S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T368C	19						.						126.0	116.0	119.0					19																	14991800		2203	4300	6503	14852800	SO:0001583	missense	26333	exon1			X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.368T>C	19.37:g.14991800A>G	ENSP00000328144:p.Phe123Ser		14852800	NM_030901	Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	a	9.914	1.210219	0.22289	.	.	ENSG00000185385	ENST00000327462	T	0.01347	4.99	2.74	-4.68	0.03309	GPCR, rhodopsin-like superfamily (1);	0.829194	0.09815	U	0.752231	T	0.08313	0.0207	M	0.90542	3.125	0.09310	N	1	D	0.58620	0.983	D	0.68943	0.961	T	0.00209	-1.1917	10	0.87932	D	0	.	10.7349	0.46120	0.1961:0.0:0.0:0.8039	.	123	O14581	OR7AH_HUMAN	S	123	ENSP00000328144:F123S	ENSP00000328144:F123S	F	-	2	0	OR7A17	14852800	0.000000	0.05858	0.093000	0.20910	0.193000	0.23685	-0.316000	0.08071	-1.095000	0.03050	0.324000	0.21423	TTT		0.507	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901	
NOTCH3	4854	broad.mit.edu	37	19	15289906	15289906	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:15289906C>T	ENST00000263388.2	-	22	3723	c.3648G>A	c.(3646-3648)gcG>gcA	p.A1216A		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1216	EGF-like 31. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A1216A(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGTGTGTGCCGCGTGGCAGG	0.632																																					p.A1216A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3648A	19						.						32.0	37.0	35.0					19																	15289906		2203	4300	6503	15150906	SO:0001819	synonymous_variant	4854	exon22			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.3648G>A	19.37:g.15289906C>T			15150906	NM_000435	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	CCDS12326.1																																																																																				0.632	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
EPHX3	79852	broad.mit.edu	37	19	15338334	15338334	+	Missense_Mutation	SNP	G	G	A	rs147382956	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:15338334G>A	ENST00000221730.3	-	7	1217	c.997C>T	c.(997-999)Cca>Tca	p.P333S	EPHX3_ENST00000435261.1_Missense_Mutation_p.P333S|EPHX3_ENST00000602233.1_Missense_Mutation_p.P333S	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	333						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)	p.P333S(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CCTATGCCTGGCAGGATGTGG	0.612													G|||	4	0.000798722	0.0	0.0	5008	,	,		18316	0.0		0.004	False		,,,				2504	0.0				p.P333S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C997T	19						.	G	SER/PRO,SER/PRO	3,4403	9.9+/-24.2	0,3,2200	72.0	66.0	68.0		997,997	4.6	1.0	19	dbSNP_134	68	15,8585	10.5+/-38.8	0,15,4285	yes	missense,missense	EPHX3	NM_001142886.1,NM_024794.2	74,74	0,18,6485	AA,AG,GG		0.1744,0.0681,0.1384	benign,benign	333/361,333/361	15338334	18,12988	2203	4300	6503	15199334	SO:0001583	missense	79852	exon7			AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.997C>T	19.37:g.15338334G>A	ENSP00000221730:p.Pro333Ser		15199334	NM_024794	A3KMR3	Missense_Mutation	SNP	ENST00000221730.3	37	CCDS12327.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	7.342	0.621126	0.14193	6.81E-4	0.001744	ENSG00000105131	ENST00000221730;ENST00000435261	T;T	0.72394	-0.65;-0.65	4.63	4.63	0.57726	.	0.105878	0.40222	N	0.001141	T	0.64227	0.2579	M	0.72576	2.205	0.43698	D	0.996155	B	0.32382	0.368	B	0.39152	0.292	T	0.65425	-0.6171	10	0.23891	T	0.37	-7.0738	12.9142	0.58197	0.0:0.0:1.0:0.0	.	333	Q9H6B9	EPHX3_HUMAN	S	333	ENSP00000221730:P333S;ENSP00000410323:P333S	ENSP00000221730:P333S	P	-	1	0	EPHX3	15199334	1.000000	0.71417	0.965000	0.40720	0.509000	0.34042	4.273000	0.58914	2.417000	0.82017	0.549000	0.68633	CCA		0.612	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	NM_024794	
CYP4F3	4051	broad.mit.edu	37	19	15752323	15752323	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:15752323G>A	ENST00000221307.8	+	2	145	c.98G>A	c.(97-99)cGc>cAc	p.R33H	CYP4F3_ENST00000591058.1_Missense_Mutation_p.R33H|CYP4F3_ENST00000586182.2_Missense_Mutation_p.R33H|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R33H	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	33					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.R33H(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTCCTGGCCCGCATCCTGGCC	0.637																																					p.R33H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G98A	19						.						58.0	61.0	60.0					19																	15752323		2203	4300	6503	15613323	SO:0001583	missense	4051	exon2			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.98G>A	19.37:g.15752323G>A	ENSP00000221307:p.Arg33His		15613323	NM_001199209	B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	9.998	1.232799	0.22626	.	.	ENSG00000186529	ENST00000221307	D	0.91945	-2.94	3.9	0.0887	0.14455	.	0.676293	0.12536	U	0.460330	D	0.86485	0.5944	L	0.45581	1.43	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.14578	0.011;0.011	T	0.74121	-0.3767	10	0.35671	T	0.21	.	6.5297	0.22320	0.3854:0.0:0.6146:0.0	.	33;33	B7Z8Z3;Q08477	.;CP4F3_HUMAN	H	33	ENSP00000221307:R33H	ENSP00000221307:R33H	R	+	2	0	CYP4F3	15613323	0.000000	0.05858	0.014000	0.15608	0.003000	0.03518	0.526000	0.22971	0.165000	0.19558	-0.474000	0.04947	CGC		0.637	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896	
TPM4	7171	broad.mit.edu	37	19	16192749	16192749	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:16192749C>T	ENST00000300933.4	+	2	419	c.159C>T	c.(157-159)aaC>aaT	p.N53N	TPM4_ENST00000344824.6_Silent_p.N89N|TPM4_ENST00000538887.1_Silent_p.N89N	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	53					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.N53N(1)|p.N89N(1)	TPM4/ALK(12)	breast(1)|large_intestine(3)	4						CCGCCCTCAACCGACGCATCC	0.612			T	ALK	ALCL																																p.N89N			Dom	yes		19	19p13.1	7171	tropomyosin 4		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C267T	19						.						46.0	47.0	47.0					19																	16192749		2203	4300	6503	16053749	SO:0001819	synonymous_variant	7171	exon3				CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"""Tropomyosins"""	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000300933.4:c.159C>T	19.37:g.16192749C>T			16053749	NM_001145160	P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Silent	SNP	ENST00000300933.4	37	CCDS12338.1																																																																																				0.612	TPM4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459673.2	NM_003290	
HSH2D	84941	broad.mit.edu	37	19	16268434	16268434	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:16268434G>A	ENST00000253680.6	+	9	1419	c.888G>A	c.(886-888)tcG>tcA	p.S296S	HSH2D_ENST00000588246.1_Missense_Mutation_p.G297S|HSH2D_ENST00000593154.2_Missense_Mutation_p.G297S|HSH2D_ENST00000397372.4_Silent_p.S206S			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	296					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.S296S(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCGAGAGGTCGGTCAGCTGCA	0.602																																					p.G297S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G889A	19						.						44.0	49.0	47.0					19																	16268434		2025	4176	6201	16129434	SO:0001819	synonymous_variant	84941	exon8			AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.888G>A	19.37:g.16268434G>A			16129434	NM_032855	B5ME72|Q6ZNG7	Missense_Mutation	SNP	ENST00000253680.6	37																																																																																					0.602	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855	
C19orf44	84167	broad.mit.edu	37	19	16612246	16612246	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:16612246G>A	ENST00000221671.3	+	2	799	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.E215K	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	215								p.E215K(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AGACAGTGACGAAGAAGAAAT	0.443																																					p.E215K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G643A	19						.						79.0	84.0	82.0					19																	16612246		2203	4299	6502	16473246	SO:0001583	missense	84167	exon2			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.643G>A	19.37:g.16612246G>A	ENSP00000221671:p.Glu215Lys		16473246	NM_032207	Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241962	0.39598	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.16	2.98	0.34508	.	0.069380	0.56097	N	0.000039	T	0.52403	0.1732	M	0.74258	2.255	0.41451	D	0.987982	P;P	0.49961	0.868;0.93	B;B	0.43680	0.179;0.427	T	0.56098	-0.8035	9	0.87932	D	0	-15.5564	8.4551	0.32895	0.0841:0.1527:0.7632:0.0	.	215;215	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	K	215	.	ENSP00000221671:E215K	E	+	1	0	C19orf44	16473246	0.998000	0.40836	0.906000	0.35671	0.428000	0.31595	2.404000	0.44539	0.542000	0.28846	0.655000	0.94253	GAA		0.443	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207	
ZNF493	284443	broad.mit.edu	37	19	21607517	21607517	+	Missense_Mutation	SNP	A	A	G	rs200019691		TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:21607517A>G	ENST00000355504.4	+	2	1938	c.1672A>G	c.(1672-1674)Aaa>Gaa	p.K558E	ZNF493_ENST00000392288.2_Missense_Mutation_p.K686E|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	558					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.K558E(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						GAAACCCTACAAATGTGAAAA	0.343																																					p.K558E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1672G	19						.						32.0	36.0	35.0					19																	21607517		2201	4298	6499	21399357	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.1672A>G	19.37:g.21607517A>G	ENSP00000347691:p.Lys558Glu		21399357	NM_175910	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.423	-0.907411	0.02434	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.57752	2.36;0.38	1.06	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47116	0.1428	N	0.25201	0.72	0.09310	N	1	D;P	0.63880	0.993;0.908	D;B	0.68765	0.96;0.151	T	0.38329	-0.9666	9	0.07482	T	0.82	.	5.0349	0.14428	0.6956:0.3043:0.0:0.0	.	558;686	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	E	686;558	ENSP00000376110:K686E;ENSP00000347691:K558E	ENSP00000347691:K558E	K	+	1	0	ZNF493	21399357	0.000000	0.05858	0.039000	0.18376	0.039000	0.13416	-2.599000	0.00893	0.388000	0.25054	0.383000	0.25322	AAA		0.343	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
LMNB2	84823	broad.mit.edu	37	19	2431784	2431784	+	Silent	SNP	G	G	A	rs372581793		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:2431784G>A	ENST00000582871.1	-	10	1733	c.1647C>T	c.(1645-1647)ggC>ggT	p.G549G	LMNB2_ENST00000325327.3_Silent_p.G569G|LMNB2_ENST00000475819.1_5'UTR	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	549	LTD.|Tail.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)	p.G549G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		CACCCACCTCGCCATCCGCGT	0.726																																					p.G549G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1647T	19						.	G		1,4403	2.1+/-5.4	0,1,2201	73.0	65.0	68.0		1647	-4.2	0.3	19		68	0,8594		0,0,4297	no	coding-synonymous	LMNB2	NM_032737.2		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		549/601	2431784	1,12997	2202	4297	6499	2382784	SO:0001819	synonymous_variant	84823	exon10			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1647C>T	19.37:g.2431784G>A			2382784	NM_032737	O75292|Q14734|Q96DF6	Silent	SNP	ENST00000582871.1	37																																																																																					0.726	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737	
ZNF675	171392	broad.mit.edu	37	19	23845960	23845960	+	Splice_Site	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:23845960C>A	ENST00000359788.4	-	2	172	c.4G>T	c.(4-6)Gga>Tga	p.G2*	ZNF675_ENST00000599168.1_Splice_Site_p.G2*|ZNF675_ENST00000601935.1_Splice_Site_p.G2*|ZNF675_ENST00000596211.1_Splice_Site_p.G2*|ZNF675_ENST00000601010.1_Splice_Site_p.G2*|ZNF675_ENST00000600313.1_Splice_Site_p.G2*	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	2					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.G2*(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)				GTCAACAGTCCCTGAAAAACA	0.378																																					p.G2X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4T	19						.						81.0	88.0	86.0					19																	23845960		2202	4300	6502	23637800	SO:0001630	splice_region_variant	171392	exon2				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.4-1G>T	19.37:g.23845960C>A			23637800	NM_138330	Q8N211	Nonsense_Mutation	SNP	ENST00000359788.4	37	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	15.14	2.744229	0.49151	.	.	ENSG00000197372	ENST00000359788	.	.	.	0.926	0.926	0.19430	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.9893	0.14205	0.0:1.0:0.0:0.0	.	.	.	.	X	2	.	ENSP00000352836:G2X	G	-	1	0	ZNF675	23637800	0.742000	0.28228	0.155000	0.22561	0.156000	0.22039	2.584000	0.46102	0.308000	0.22923	0.313000	0.20887	GGA		0.378	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330	Nonsense_Mutation
ZNF536	9745	broad.mit.edu	37	19	30934614	30934614	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:30934614G>A	ENST00000355537.3	+	2	292	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	49					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.E49K(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCCTTCCCCGAGCTCCATCC	0.667																																					p.E49K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G145A	19						.						67.0	68.0	68.0					19																	30934614		2203	4300	6503	35626454	SO:0001583	missense	9745	exon2				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.145G>A	19.37:g.30934614G>A	ENSP00000347730:p.Glu49Lys		35626454	NM_014717	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629857	0.46944	.	.	ENSG00000198597	ENST00000355537	T	0.09445	2.98	5.37	4.32	0.51571	.	0.160306	0.56097	D	0.000036	T	0.15652	0.0377	L	0.32530	0.975	0.50313	D	0.999861	P;D	0.69078	0.952;0.997	B;P	0.53954	0.278;0.738	T	0.08146	-1.0736	10	0.18710	T	0.47	-33.2908	16.3674	0.83338	0.0:0.1321:0.8679:0.0	.	49;49	A7E228;O15090	.;ZN536_HUMAN	K	49	ENSP00000347730:E49K	ENSP00000347730:E49K	E	+	1	0	ZNF536	35626454	1.000000	0.71417	0.966000	0.40874	0.941000	0.58515	7.788000	0.85771	1.382000	0.46385	0.462000	0.41574	GAG		0.667	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
ZNF536	9745	broad.mit.edu	37	19	30935424	30935424	+	Missense_Mutation	SNP	G	G	A	rs142265762		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:30935424G>A	ENST00000355537.3	+	2	1102	c.955G>A	c.(955-957)Gtg>Atg	p.V319M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	319					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.V319L(1)|p.V319M(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CATCAGCCACGTGGAGAAGGC	0.667																																					p.V319M												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G955A	19						.	G	MET/VAL	0,4406		0,0,2203	88.0	98.0	95.0		955	5.6	1.0	19	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF536	NM_014717.1	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	319/1301	30935424	1,13005	2203	4300	6503	35627264	SO:0001583	missense	9745	exon2				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.955G>A	19.37:g.30935424G>A	ENSP00000347730:p.Val319Met		35627264	NM_014717	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882687	0.33255	0.0	1.16E-4	ENSG00000198597	ENST00000355537	T	0.27720	1.65	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	N	0.04787	-0.16	0.51482	D	0.999927	D;D	0.89917	0.999;1.0	D;D	0.97110	0.963;1.0	T	0.36237	-0.9756	10	0.18710	T	0.47	-33.4233	19.5661	0.95393	0.0:0.0:1.0:0.0	.	319;319	A7E228;O15090	.;ZN536_HUMAN	M	319	ENSP00000347730:V319M	ENSP00000347730:V319M	V	+	1	0	ZNF536	35627264	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.024000	0.88770	2.631000	0.89168	0.491000	0.48974	GTG		0.667	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
SHC2	25759	broad.mit.edu	37	19	436639	436639	+	Silent	SNP	G	G	A	rs182383668		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:436639G>A	ENST00000264554.6	-	5	764	c.765C>T	c.(763-765)ggC>ggT	p.G255G		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	255	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)		p.G616G(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGTCTCCGCCTGACGCGA	0.706													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15644	0.0		0.0	False		,,,				2504	0.0				p.G255G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C765T	19						.	G		1,4287		0,1,2143	27.0	35.0	32.0		765	-9.2	0.0	19		32	0,8488		0,0,4244	no	coding-synonymous	SHC2	NM_012435.2		0,1,6387	AA,AG,GG		0.0,0.0233,0.0078		255/583	436639	1,12775	2144	4244	6388	387639	SO:0001819	synonymous_variant	25759	exon5			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.765C>T	19.37:g.436639G>A			387639	NM_012435	O60230|Q9NPL5|Q9UCX4	Silent	SNP	ENST00000264554.6	37	CCDS45891.1																																																																																				0.706	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3		
ATCAY	85300	broad.mit.edu	37	19	3913846	3913846	+	Silent	SNP	C	C	T	rs370680121		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:3913846C>T	ENST00000450849.2	+	9	1424	c.957C>T	c.(955-957)tgC>tgT	p.C319C	ATCAY_ENST00000301260.6_Silent_p.C319C|ATCAY_ENST00000398448.3_Silent_p.C325C|ATCAY_ENST00000600960.1_Silent_p.C319C	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	319	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)	p.C319C(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TCCCAGACTGCGTCCTGCAGT	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		12433	0.0		0.0	False		,,,				2504	0.0				p.C319C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C957T	19						.	C		0,4086		0,0,2043	72.0	77.0	75.0		957	-2.7	0.8	19		75	1,8345		0,1,4172	no	coding-synonymous	ATCAY	NM_033064.4		0,1,6215	TT,TC,CC		0.012,0.0,0.0080		319/372	3913846	1,12431	2043	4173	6216	3864846	SO:0001819	synonymous_variant	85300	exon9				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.957C>T	19.37:g.3913846C>T			3864846	NM_033064	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	ENST00000450849.2	37	CCDS45923.1																																																																																				0.537	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2		
DAPK3	1613	broad.mit.edu	37	19	3961142	3961142	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:3961142G>A	ENST00000545797.2	-	7	890	c.647C>T	c.(646-648)cCg>cTg	p.P216L	MIR637_ENST00000385000.1_RNA|DAPK3_ENST00000301264.3_Missense_Mutation_p.P216L			O43293	DAPK3_HUMAN	death-associated protein kinase 3	216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> S (in a lung neuroendocrine carcinoma sample; somatic mutation; greatly reduces kinase acivity, increases cell proliferation, cell adhesion and cell survival). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:21487036}.		apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)	p.P216L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCAGGAACGGGGATGCACC	0.672																																					p.P216L												DAPK3,lung,NS,Substitution - Missense,-1	.	1	Substitution - Missense(1)	large_intestine(1)	c.C647T	19						.						84.0	64.0	71.0					19																	3961142		2203	4299	6502	3912142	SO:0001583	missense	1613	exon6			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.647C>T	19.37:g.3961142G>A	ENSP00000442973:p.Pro216Leu		3912142	NM_001348	A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	ENST00000545797.2	37	CCDS12116.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927978	0.92389	.	.	ENSG00000167657	ENST00000301264;ENST00000545797;ENST00000442766	T;T	0.56611	0.45;0.45	5.58	5.58	0.84498	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	0.76702	0.4024	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80231	-0.1468	10	0.87932	D	0	.	18.1265	0.89587	0.0:0.0:1.0:0.0	.	216	O43293	DAPK3_HUMAN	L	216;216;71	ENSP00000301264:P216L;ENSP00000442973:P216L	ENSP00000301264:P216L	P	-	2	0	DAPK3	3912142	1.000000	0.71417	0.965000	0.40720	0.690000	0.40134	9.535000	0.98064	2.627000	0.88993	0.555000	0.69702	CCG		0.672	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348	
ZBTB7A	51341	broad.mit.edu	37	19	4054676	4054676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:4054676C>T	ENST00000322357.4	-	2	833	c.555G>A	c.(553-555)tgG>tgA	p.W185*	ZBTB7A_ENST00000601588.1_Nonsense_Mutation_p.W185*	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	185	Ala-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)	p.W185*(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAGGCGGACCACGGGAAGC	0.701																																					p.W185X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G555A	19						.						10.0	11.0	11.0					19																	4054676		2157	4210	6367	4005676	SO:0001587	stop_gained	51341	exon2			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.555G>A	19.37:g.4054676C>T	ENSP00000323670:p.Trp185*		4005676	NM_015898	D6W619|O00456|Q14D41|Q5XG86	Nonsense_Mutation	SNP	ENST00000322357.4	37	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343778	0.61073	.	.	ENSG00000178951	ENST00000322357	.	.	.	5.02	3.95	0.45737	.	0.743675	0.11029	U	0.607501	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	7.4715	0.27351	0.167:0.7484:0.0:0.0846	.	.	.	.	X	185	.	ENSP00000323670:W185X	W	-	3	0	ZBTB7A	4005676	1.000000	0.71417	0.831000	0.32960	0.027000	0.11550	5.209000	0.65208	1.050000	0.40346	0.462000	0.41574	TGG		0.701	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898	
MAP2K2	5605	broad.mit.edu	37	19	4110646	4110646	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:4110646T>C	ENST00000262948.5	-	3	564	c.311A>G	c.(310-312)cAc>cGc	p.H104R	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Missense_Mutation_p.H7R	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|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 cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)	p.H104R(1)					Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	GATCTCAAGGTGGATCAGCTG	0.617																																					p.H104R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A311G	19						.						58.0	48.0	52.0					19																	4110646		2203	4300	6503	4061646	SO:0001583	missense	5605	exon3			L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.311A>G	19.37:g.4110646T>C	ENSP00000262948:p.His104Arg		4061646	NM_030662		Missense_Mutation	SNP	ENST00000262948.5	37	CCDS12120.1	.	.	.	.	.	.	.	.	.	.	t	15.99	2.994761	0.54041	.	.	ENSG00000126934	ENST00000262948;ENST00000394867	D;D	0.91686	-2.89;-2.89	5.3	5.3	0.74995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	N	0.11341	0.13	0.80722	D	1	B	0.14805	0.011	B	0.20384	0.029	T	0.79463	-0.1793	10	0.31617	T	0.26	-43.0156	14.0565	0.64772	0.0:0.0:0.0:1.0	.	104	P36507	MP2K2_HUMAN	R	104;7	ENSP00000262948:H104R;ENSP00000378336:H7R	ENSP00000262948:H104R	H	-	2	0	MAP2K2	4061646	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.935000	0.87658	1.999000	0.58509	0.459000	0.35465	CAC		0.617	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2		
SLC7A9	11136	broad.mit.edu	37	19	33350770	33350770	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:33350770G>A	ENST00000023064.4	-	8	1041	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000587772.1_Silent_p.L284L|SLC7A9_ENST00000590341.1_Silent_p.L284L	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	284					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.L284L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TGGGACTGCAGGAGTTCGGTG	0.617																																					p.L284L	GBM(181;1335 2108 9644 44178 46689)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C850T	19						.						74.0	65.0	68.0					19																	33350770		2203	4300	6503	38042610	SO:0001819	synonymous_variant	11136	exon8			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.850C>T	19.37:g.33350770G>A			38042610	NM_001126335	B2R9A6	Silent	SNP	ENST00000023064.4	37	CCDS12425.1																																																																																				0.617	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1		
ATP4A	495	broad.mit.edu	37	19	36050919	36050919	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:36050919C>T	ENST00000262623.3	-	7	872	c.844G>A	c.(844-846)Gca>Aca	p.A282T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	282					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.A282T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCCAGCGATGCGATGCGCCCA	0.642																																					p.A282T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G844A	19						.						95.0	73.0	80.0					19																	36050919		2203	4300	6503	40742759	SO:0001583	missense	495	exon7				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.844G>A	19.37:g.36050919C>T	ENSP00000262623:p.Ala282Thr		40742759	NM_000704	O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490498	0.64074	.	.	ENSG00000105675	ENST00000262623	D	0.92199	-2.99	3.94	3.94	0.45596	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.077790	0.48767	N	0.000178	D	0.95484	0.8533	M	0.84156	2.68	0.58432	D	0.999999	D	0.69078	0.997	D	0.64595	0.927	D	0.95985	0.8981	10	0.87932	D	0	.	13.8309	0.63380	0.0:1.0:0.0:0.0	.	282	P20648	ATP4A_HUMAN	T	282	ENSP00000262623:A282T	ENSP00000262623:A282T	A	-	1	0	ATP4A	40742759	1.000000	0.71417	0.291000	0.24904	0.060000	0.15804	7.608000	0.82898	2.203000	0.70933	0.561000	0.74099	GCA		0.642	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704	
KMT2B	9757	broad.mit.edu	37	19	36215969	36215969	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:36215969G>A	ENST00000222270.7	+	10	3509	c.3509G>A	c.(3508-3510)cGc>cAc	p.R1170H	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R1170H	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1170					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R1172H(1)									GGTGTGCACCGCGTCCGTGTG	0.567																																					p.R1170H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3509A	19						.						65.0	71.0	69.0					19																	36215969		2018	4185	6203	40907809	SO:0001583	missense	9757	exon10			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3509G>A	19.37:g.36215969G>A	ENSP00000222270:p.Arg1170His		40907809	NM_014727	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216456	0.58452	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	T;T	0.65916	-0.18;-0.18	5.28	5.28	0.74379	.	0.000000	0.40385	N	0.001109	T	0.75466	0.3853	L	0.49126	1.545	0.53005	D	0.999968	D	0.89917	1.0	D	0.83275	0.996	T	0.76252	-0.3027	10	0.62326	D	0.03	.	17.8487	0.88738	0.0:0.0:1.0:0.0	.	1170	Q9UMN6	MLL4_HUMAN	H	1170	ENSP00000222270:R1170H;ENSP00000398837:R1170H	ENSP00000222270:R1170H	R	+	2	0	AD000671.1	40907809	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	5.697000	0.68295	2.742000	0.94016	0.650000	0.86243	CGC		0.567	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
ZNF461	92283	broad.mit.edu	37	19	37147386	37147386	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:37147386T>C	ENST00000588268.1	-	4	423	c.196A>G	c.(196-198)Atg>Gtg	p.M66V	ZNF461_ENST00000360357.4_Missense_Mutation_p.M66V	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	66	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.M66V(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTCACAACCATCCAGGGCTCC	0.493																																					p.M66V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A196G	19						.						81.0	84.0	83.0					19																	37147386		2106	4256	6362	41839226	SO:0001583	missense	92283	exon4			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.196A>G	19.37:g.37147386T>C	ENSP00000467931:p.Met66Val		41839226	NM_153257	A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	T	8.756	0.922453	0.17982	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000396892	T	0.05649	3.41	3.27	2.12	0.27331	Krueppel-associated box (2);	.	.	.	.	T	0.04724	0.0128	L	0.31420	0.93	0.21579	N	0.999636	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.35351	-0.9792	9	0.33141	T	0.24	.	5.1859	0.15184	0.2598:0.0:0.0:0.7402	.	66;66	B4DRP8;Q8TAF7	.;ZN461_HUMAN	V	66;66;1	ENSP00000353515:M66V	ENSP00000353515:M66V	M	-	1	0	ZNF461	41839226	0.770000	0.28543	0.936000	0.37596	0.990000	0.78478	0.452000	0.21795	1.495000	0.48549	0.477000	0.44152	ATG		0.493	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257	
SIPA1L3	23094	broad.mit.edu	37	19	38572495	38572495	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:38572495G>A	ENST00000222345.6	+	3	799	c.290G>A	c.(289-291)aGc>aAc	p.S97N		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	97					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.S97N(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGAGAGCACAGCAACCCAAGC	0.672																																					p.S97N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G290A	19						.						54.0	61.0	58.0					19																	38572495		2203	4299	6502	43264335	SO:0001583	missense	23094	exon3			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.290G>A	19.37:g.38572495G>A	ENSP00000222345:p.Ser97Asn		43264335	NM_015073	Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	9.907	1.208388	0.22205	.	.	ENSG00000105738	ENST00000222345	T	0.76316	-1.01	4.99	-7.7	0.01259	.	0.812660	0.11552	N	0.552684	T	0.50069	0.1594	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.34625	-0.9821	10	0.44086	T	0.13	-10.6967	7.8378	0.29380	0.1186:0.0996:0.6904:0.0915	.	97	O60292	SI1L3_HUMAN	N	97	ENSP00000222345:S97N	ENSP00000222345:S97N	S	+	2	0	SIPA1L3	43264335	0.000000	0.05858	0.904000	0.35570	0.927000	0.56198	-0.836000	0.04382	-0.889000	0.03950	0.557000	0.71058	AGC		0.672	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
YIF1B	90522	broad.mit.edu	37	19	38798117	38798117	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:38798117C>T	ENST00000339413.6	-	7	785	c.740G>A	c.(739-741)gGc>gAc	p.G247D	YIF1B_ENST00000392124.3_Missense_Mutation_p.G216D|YIF1B_ENST00000592694.1_Missense_Mutation_p.G216D|YIF1B_ENST00000337679.8_Missense_Mutation_p.G244D|YIF1B_ENST00000591784.1_Missense_Mutation_p.G216D|YIF1B_ENST00000329420.8_Missense_Mutation_p.G232D|YIF1B_ENST00000591755.1_Missense_Mutation_p.G244D|YIF1B_ENST00000587361.1_5'Flank|YIF1B_ENST00000592246.1_Missense_Mutation_p.G181D	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	247						integral component of membrane (GO:0016021)		p.G216D(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGGTAGTAGCCAATCTTCCC	0.647																																					p.G216D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G647A	19						.						82.0	75.0	78.0					19																	38798117		2203	4300	6503	43489957	SO:0001583	missense	90522	exon7			AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.740G>A	19.37:g.38798117C>T	ENSP00000343435:p.Gly247Asp		43489957	NM_001145462	H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Missense_Mutation	SNP	ENST00000339413.6	37	CCDS33010.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268960	0.80469	.	.	ENSG00000167645	ENST00000339413;ENST00000329420;ENST00000392124;ENST00000337679	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.66	5.66	0.87406	.	0.056263	0.64402	D	0.000002	D	0.94663	0.8279	M	0.91406	3.205	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.996;0.997;0.999;0.997;0.999	D;D;D;D;D	0.76575	0.944;0.975;0.956;0.968;0.988	D	0.94065	0.7330	10	0.36615	T	0.2	-14.4652	17.2371	0.87002	0.0:1.0:0.0:0.0	.	216;244;244;247;244	Q5BJH7-2;Q5BJH7-5;Q5BJH7-4;Q5BJH7;Q5BJH7-3	.;.;.;YIF1B_HUMAN;.	D	247;232;216;244	ENSP00000343435:G247D;ENSP00000329559:G232D;ENSP00000375971:G216D;ENSP00000337411:G244D	ENSP00000329559:G232D	G	-	2	0	YIF1B	43489957	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.613000	0.61176	2.662000	0.90505	0.555000	0.69702	GGC		0.647	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460511.1	NM_033557	
FAM98C	147965	broad.mit.edu	37	19	38896061	38896061	+	Splice_Site	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:38896061G>T	ENST00000252530.5	+	5	652	c.633G>T	c.(631-633)tgG>tgT	p.W211C	FAM98C_ENST00000343358.7_Intron|FAM98C_ENST00000588262.1_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	211								p.W211C(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACCCAGATGGGTAAGACTGT	0.572																																					p.W211C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G633T	19						.						89.0	89.0	89.0					19																	38896061		2138	4258	6396	43587901	SO:0001630	splice_region_variant	147965	exon5				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.633+1G>T	19.37:g.38896061G>T			43587901	NM_174905	A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478053	0.63849	.	.	ENSG00000130244	ENST00000252530	T	0.54479	0.57	4.73	4.73	0.59995	.	0.163691	0.29522	N	0.011908	T	0.74794	0.3763	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79266	-0.1874	10	0.62326	D	0.03	-16.036	13.2635	0.60120	0.0:0.0:1.0:0.0	.	211	Q17RN3	FA98C_HUMAN	C	211	ENSP00000252530:W211C	ENSP00000252530:W211C	W	+	3	0	FAM98C	43587901	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.406000	0.52637	2.159000	0.67721	0.558000	0.71614	TGG		0.572	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905	Missense_Mutation
RYR1	6261	broad.mit.edu	37	19	38934889	38934889	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:38934889C>T	ENST00000359596.3	+	6	525	c.525C>T	c.(523-525)tcC>tcT	p.S175S	RYR1_ENST00000360985.3_Silent_p.S175S|RYR1_ENST00000355481.4_Silent_p.S175S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	175	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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.S175S(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)	GTGTCTCCTCCGAGCGCTACC	0.597																																					p.S175S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C525T	19						.						97.0	78.0	84.0					19																	38934889		2203	4300	6503	43626729	SO:0001819	synonymous_variant	6261	exon6			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.525C>T	19.37:g.38934889C>T			43626729	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
SIRT2	22933	broad.mit.edu	37	19	39374330	39374330	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:39374330A>C	ENST00000249396.7	-	9	869	c.568T>G	c.(568-570)Ttc>Gtc	p.F190V	SIRT2_ENST00000358931.5_Missense_Mutation_p.F190V|SIRT2_ENST00000392081.2_Missense_Mutation_p.F153V	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	190	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.F190V(1)		endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GATGTGTAGAAGGTGCCGTGC	0.602																																					p.F153V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T457G	19						.						91.0	72.0	78.0					19																	39374330		2203	4300	6503	44066170	SO:0001583	missense	22933	exon8			AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.568T>G	19.37:g.39374330A>C	ENSP00000249396:p.Phe190Val		44066170	NM_030593	A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	37	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784515	0.70222	.	.	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000358931;ENST00000456703;ENST00000414941;ENST00000407552	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	M	0.67953	2.075	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.906;1.0	D;D;D;D	0.91635	0.992;0.996;0.944;0.999	T	0.65837	-0.6071	10	0.87932	D	0	-10.6488	13.1972	0.59745	1.0:0.0:0.0:0.0	.	190;153;190;170	Q8IXJ6-4;Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;.;SIRT2_HUMAN;.	V	190;153;190;175;153;153	ENSP00000249396:F190V;ENSP00000375931:F153V;ENSP00000351809:F190V;ENSP00000404309:F153V;ENSP00000385146:F153V	ENSP00000249396:F190V	F	-	1	0	SIRT2	44066170	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	8.210000	0.89753	2.027000	0.59764	0.402000	0.26972	TTC		0.602	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1		
SAMD4B	55095	broad.mit.edu	37	19	39877397	39877397	+	IGR	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:39877397T>C	ENST00000314471.6	+	0	4519				PAF1_ENST00000221266.7_Silent_p.S310S|PAF1_ENST00000221265.3_Silent_p.S343S|PAF1_ENST00000595564.1_Silent_p.S333S	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S343S(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGTTGGTGCCTGACTGAACCC	0.572																																					p.S343S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1029G	19						.						123.0	104.0	111.0					19																	39877397		2203	4300	6503	44569237	SO:0001628	intergenic_variant	54623	exon12				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9			19.37:g.39877397T>C			44569237	NM_019088	A5Z0M6|Q6P194	Silent	SNP	ENST00000314471.6	37	CCDS33020.1																																																																																				0.572	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028	
FCGBP	8857	broad.mit.edu	37	19	40389762	40389762	+	Missense_Mutation	SNP	C	C	T	rs587722177		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:40389762C>T	ENST00000221347.6	-	18	8427	c.8420G>A	c.(8419-8421)cGg>cAg	p.R2807Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2807	Cys-rich.					extracellular vesicular exosome (GO:0070062)		p.R2807Q(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCACTGCTGCCGACAGTTGTC	0.632													c|||	1	0.000199681	0.0	0.0014	5008	,	,		19954	0.0		0.0	False		,,,				2504	0.0				p.R2807Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8420A	19						.						10.0	9.0	9.0					19																	40389762		1990	3585	5575	45081602	SO:0001583	missense	8857	exon18			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.8420G>A	19.37:g.40389762C>T	ENSP00000221347:p.Arg2807Gln		45081602	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	c	7.620	0.676573	0.14841	.	.	ENSG00000090920	ENST00000221347	T	0.04654	3.58	2.94	-2.68	0.06041	von Willebrand factor, type C (1);	3.108090	0.01209	N	0.007781	T	0.01627	0.0052	N	0.02973	-0.45	0.18873	N	0.999988	P	0.42248	0.774	B	0.31495	0.131	T	0.37197	-0.9716	10	0.13470	T	0.59	.	4.2188	0.10547	0.0:0.456:0.2174:0.3265	.	2807	Q9Y6R7	FCGBP_HUMAN	Q	2807	ENSP00000221347:R2807Q	ENSP00000221347:R2807Q	R	-	2	0	FCGBP	45081602	0.958000	0.32768	0.946000	0.38457	0.073000	0.16967	-0.358000	0.07641	-0.365000	0.08076	0.313000	0.20887	CGG		0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
PRX	57716	broad.mit.edu	37	19	40900407	40900407	+	Silent	SNP	G	G	A	rs567324732	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:40900407G>A	ENST00000324001.7	-	7	4122	c.3852C>T	c.(3850-3852)tcC>tcT	p.S1284S	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1284					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S1284S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGTTGCCCCCGGATGGCGAGA	0.701													G|||	2	0.000399361	0.0	0.0	5008	,	,		15432	0.0		0.0	False		,,,				2504	0.002				p.S1284S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3852T	19						.						12.0	12.0	12.0					19																	40900407		2194	4291	6485	45592247	SO:0001819	synonymous_variant	57716	exon7			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3852C>T	19.37:g.40900407G>A			45592247	NM_181882	Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	CCDS33028.1																																																																																				0.701	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956	
SNRPA	6626	broad.mit.edu	37	19	41263356	41263356	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:41263356G>A	ENST00000243563.3	+	2	743	c.193G>A	c.(193-195)Gcc>Acc	p.A65T	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	65	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)	p.A65T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGTCAGCAGCGCCACCAACGC	0.542																																					p.A65T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G193A	19						.						88.0	83.0	85.0					19																	41263356		2203	4300	6503	45955196	SO:0001583	missense	6626	exon2			X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"""RNA binding motif (RRM) containing"""	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.193G>A	19.37:g.41263356G>A	ENSP00000243563:p.Ala65Thr		45955196	NM_004596		Missense_Mutation	SNP	ENST00000243563.3	37	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519356	0.64634	.	.	ENSG00000077312	ENST00000243563	T	0.30714	1.52	5.97	4.94	0.65067	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.103999	0.64402	D	0.000003	T	0.52125	0.1715	H	0.96604	3.85	0.58432	D	0.999999	B	0.19817	0.039	B	0.32465	0.146	T	0.59852	-0.7376	10	0.72032	D	0.01	-35.8883	9.6557	0.39925	0.0739:0.0:0.7848:0.1412	.	65	P09012	SNRPA_HUMAN	T	65	ENSP00000243563:A65T	ENSP00000243563:A65T	A	+	1	0	SNRPA	45955196	1.000000	0.71417	0.973000	0.42090	0.714000	0.41099	6.474000	0.73578	1.546000	0.49388	-0.136000	0.14681	GCC		0.542	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596	
PAFAH1B3	5050	broad.mit.edu	37	19	42804150	42804150	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:42804150C>T	ENST00000262890.3	-	4	641	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	PRR19_ENST00000341747.3_5'Flank|PAFAH1B3_ENST00000538771.1_Missense_Mutation_p.R127Q|PRR19_ENST00000598490.1_5'Flank	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	127					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)	p.R127Q(1)		breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				CTGGGGCTGTCGCTCATTCAC	0.592																																					p.R127Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G380A	19						.						138.0	128.0	131.0					19																	42804150		2203	4300	6503	47495990	SO:0001583	missense	5050	exon4			D63391	CCDS12602.1	19q13.1	2011-10-24	2010-02-10			ENSG00000079462			8576	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 1 subunit"""	603074	"""platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)"", ""platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)"""			7669037	Standard	NM_002573		Approved		uc010xwj.1	Q15102		ENST00000262890.3:c.380G>A	19.37:g.42804150C>T	ENSP00000262890:p.Arg127Gln		47495990	NM_002573	Q53X88	Missense_Mutation	SNP	ENST00000262890.3	37	CCDS12602.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141666	0.57044	.	.	ENSG00000079462	ENST00000538771;ENST00000262890	T;T	0.44881	0.91;0.91	5.46	4.4	0.53042	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.110134	0.64402	D	0.000018	T	0.31136	0.0787	L	0.58810	1.83	0.30795	N	0.740455	P	0.45176	0.852	B	0.29353	0.101	T	0.36648	-0.9739	10	0.18710	T	0.47	-15.8119	12.9396	0.58335	0.1691:0.8309:0.0:0.0	.	127	Q15102	PA1B3_HUMAN	Q	127	ENSP00000444935:R127Q;ENSP00000262890:R127Q	ENSP00000262890:R127Q	R	-	2	0	PAFAH1B3	47495990	0.049000	0.20398	1.000000	0.80357	0.943000	0.58893	1.004000	0.29822	1.237000	0.43756	0.467000	0.42956	CGA		0.592	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463726.1	NM_002573	
MEGF8	1954	broad.mit.edu	37	19	42847783	42847783	+	Splice_Site	SNP	C	C	T	rs370015031		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:42847783C>T	ENST00000251268.6	+	9	1668	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	MEGF8_ENST00000334370.4_Splice_Site_p.D556D	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	556					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.D97D(1)|p.D556D(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGCCCCTGACGTGAGCACTG	0.662																																					p.D556D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1668T	19						.	C		3,4403	6.2+/-15.9	0,3,2200	24.0	21.0	22.0		1668	-10.2	0.1	19		22	0,8600		0,0,4300	no	coding-synonymous-near-splice	MEGF8	NM_001410.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		556/2779	42847783	3,13003	2203	4300	6503	47539623	SO:0001630	splice_region_variant	1954	exon9			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1668+1C>T	19.37:g.42847783C>T			47539623	NM_001410	A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37																																																																																					0.662	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	Silent
ZNF233	353355	broad.mit.edu	37	19	44778460	44778460	+	Silent	SNP	G	G	A	rs146745646		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:44778460G>A	ENST00000391958.2	+	5	1774	c.1647G>A	c.(1645-1647)tcG>tcA	p.S549S	ZNF233_ENST00000334152.1_Silent_p.S531S|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	549					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.S549S(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTCAGAGTTCGCATCTCCAAG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		22360	0.001		0.0	False		,,,				2504	0.0				p.S549S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1647A	19						.						103.0	93.0	97.0					19																	44778460		2203	4300	6503	49470300	SO:0001819	synonymous_variant	353355	exon5			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1647G>A	19.37:g.44778460G>A			49470300	NM_181756	B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	CCDS33047.1																																																																																				0.468	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756	
ZNF112	7771	broad.mit.edu	37	19	44832206	44832206	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:44832206G>T	ENST00000337401.4	-	5	2210	c.2122C>A	c.(2122-2124)Ctt>Att	p.L708I	ZNF112_ENST00000354340.4_Missense_Mutation_p.L702I|ZNF112_ENST00000536500.1_Missense_Mutation_p.L725I	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	708					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.L702I(1)									TGACTCTGAAGGTATGATCTC	0.463																																					p.L702I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2104A	19						.						137.0	116.0	123.0					19																	44832206		2203	4300	6503	49524046	SO:0001583	missense	7771	exon4			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2122C>A	19.37:g.44832206G>T	ENSP00000337081:p.Leu708Ile		49524046	NM_013380	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882003	0.72294	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.53857	0.6;0.6;0.6	5.21	5.21	0.72293	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30762	N	0.008926	T	0.79082	0.4386	M	0.92026	3.265	0.37653	D	0.922486	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.999	D	0.85624	0.1266	10	0.72032	D	0.01	-11.5415	17.8963	0.88890	0.0:0.0:1.0:0.0	.	707;725;708	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	I	708;708;702;725;707	ENSP00000337081:L708I;ENSP00000346305:L702I;ENSP00000441990:L725I	ENSP00000253426:L707I	L	-	1	0	ZNF285	49524046	0.926000	0.31397	1.000000	0.80357	0.987000	0.75469	1.412000	0.34714	2.593000	0.87608	0.655000	0.94253	CTT		0.463	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380	
ZNF285	26974	broad.mit.edu	37	19	44891987	44891987	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:44891987G>A	ENST00000330997.4	-	4	484	c.420C>T	c.(418-420)agC>agT	p.S140S	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.S147S|ZNF285_ENST00000544719.2_Silent_p.S140S	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	140					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.S140S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CCTGTGTCAGGCTTTGCCATG	0.418																																					p.S140S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C420T	19						.						90.0	89.0	89.0					19																	44891987		2203	4300	6503	49583827	SO:0001819	synonymous_variant	26974	exon4			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.420C>T	19.37:g.44891987G>A			49583827	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	CCDS12638.1																																																																																				0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	
PVRL2	5819	broad.mit.edu	37	19	45375322	45375322	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:45375322G>A	ENST00000252483.5	+	3	691	c.691G>A	c.(691-693)Gca>Aca	p.A231T	PVRL2_ENST00000252485.4_Missense_Mutation_p.A231T	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	231	Ig-like C2-type 1.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)	p.A231T(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CTCGGGCCGAGCAGATGGTGT	0.602																																					p.A231T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G691A	19						.						137.0	105.0	116.0					19																	45375322		2203	4300	6503	50067162	SO:0001583	missense	5819	exon3			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.691G>A	19.37:g.45375322G>A	ENSP00000252483:p.Ala231Thr		50067162	NM_002856	A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.313861	0.23908	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.77229	-1.08;-1.08	4.25	1.58	0.23477	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.546453	0.16539	N	0.210023	T	0.69187	0.3083	L	0.58354	1.805	0.09310	N	1	B;B	0.27068	0.167;0.03	B;B	0.24974	0.057;0.03	T	0.58418	-0.7640	10	0.44086	T	0.13	.	6.1103	0.20097	0.2661:0.0:0.7339:0.0	.	231;231	Q92692;Q92692-2	PVRL2_HUMAN;.	T	231	ENSP00000252483:A231T;ENSP00000252485:A231T	ENSP00000252483:A231T	A	+	1	0	PVRL2	50067162	0.025000	0.19082	0.000000	0.03702	0.891000	0.51852	2.408000	0.44574	0.142000	0.18901	0.561000	0.74099	GCA		0.602	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856	
RTN2	6253	broad.mit.edu	37	19	45998165	45998165	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:45998165G>A	ENST00000245923.4	-	3	413	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000344680.4_Missense_Mutation_p.R60W|RTN2_ENST00000430715.2_5'Flank|PPM1N_ENST00000396737.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	60					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)		p.R60W(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GTCAGCTCCCGGGGGGTGCCC	0.657																																					p.R60W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C178T	19						.						29.0	32.0	31.0					19																	45998165		2203	4300	6503	50690005	SO:0001583	missense	6253	exon3			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.178C>T	19.37:g.45998165G>A	ENSP00000245923:p.Arg60Trp		50690005	NM_206900	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537400	0.65085	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.58358	0.38;0.34	5.44	1.82	0.25136	.	0.138626	0.31797	N	0.007051	T	0.57636	0.2067	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.58668	-0.7596	10	0.66056	D	0.02	-24.8057	11.2618	0.49087	0.0:0.0:0.5145:0.4854	.	60;60	O75298-2;O75298	.;RTN2_HUMAN	W	60	ENSP00000345127:R60W;ENSP00000245923:R60W	ENSP00000245923:R60W	R	-	1	2	RTN2	50690005	0.525000	0.26290	0.895000	0.35142	0.629000	0.37895	0.550000	0.23345	0.591000	0.29711	0.462000	0.41574	CGG		0.657	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619	
EML2	24139	broad.mit.edu	37	19	46116874	46116874	+	Silent	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:46116874A>G	ENST00000245925.3	-	18	1799	c.1749T>C	c.(1747-1749)caT>caC	p.H583H	EML2_ENST00000589876.1_Silent_p.H583H|EML2_ENST00000536630.1_Silent_p.H730H|EML2_ENST00000587152.1_Silent_p.H784H	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	583	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.H583H(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACTTCCCATCATGAGAGCGGG	0.562																																					p.H730H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2190C	19						.						144.0	119.0	128.0					19																	46116874		2203	4300	6503	50808714	SO:0001819	synonymous_variant	24139	exon21			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1749T>C	19.37:g.46116874A>G			50808714	NM_001193269	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	ENST00000245925.3	37	CCDS12670.1																																																																																				0.562	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	
NOVA2	4858	broad.mit.edu	37	19	46443211	46443211	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:46443211G>A	ENST00000263257.5	-	4	1583	c.1389C>T	c.(1387-1389)ccC>ccT	p.P463P		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	463	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P463P(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GCGTGGCCGCGGGGCTGCCCG	0.647																																					p.P463P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1389T	19						.						50.0	55.0	53.0					19																	46443211		2203	4300	6503	51135051	SO:0001819	synonymous_variant	4858	exon4			U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.1389C>T	19.37:g.46443211G>A			51135051	NM_002516	O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	37	CCDS12679.1																																																																																				0.647	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516	
MEIS3	56917	broad.mit.edu	37	19	47910191	47910191	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:47910191G>A	ENST00000558555.1	-	11	1219	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	MEIS3_ENST00000559524.1_Silent_p.I390I|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561293.1_Silent_p.I390I|MEIS3_ENST00000561096.1_Silent_p.I432I|MEIS3_ENST00000441740.2_Silent_p.I327I|MEIS3_ENST00000331559.5_Silent_p.I373I			Q99687	MEIS3_HUMAN	Meis homeobox 3	344					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.I390I(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TATAGCCCCCGATGGGCTGGC	0.706																																					p.I390I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1170T	19						.						39.0	21.0	27.0					19																	47910191		2192	4289	6481	52602003	SO:0001819	synonymous_variant	56917	exon11			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.1032C>T	19.37:g.47910191G>A			52602003	NM_020160	A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37																																																																																					0.706	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929	
PLA2G4C	8605	broad.mit.edu	37	19	48608677	48608677	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:48608677C>T	ENST00000599921.1	-	3	390	c.33G>A	c.(31-33)ggG>ggA	p.G11G	PLA2G4C_ENST00000413144.2_Silent_p.G11G|PLA2G4C_ENST00000354276.3_Silent_p.G11G|PLA2G4C_ENST00000599111.1_Intron			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	11	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.G11G(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)		CTTTCTGGAGCCCAGGAATTA	0.453																																					p.G11G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G33A	19						.						78.0	91.0	86.0					19																	48608677		2203	4300	6503	53300489	SO:0001819	synonymous_variant	8605	exon3			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.33G>A	19.37:g.48608677C>T			53300489	NM_001159323	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	CCDS12710.1																																																																																				0.453	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
IZUMO1	284359	broad.mit.edu	37	19	49247763	49247763	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:49247763A>G	ENST00000332955.2	-	4	891	c.344T>C	c.(343-345)tTg>tCg	p.L115S		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	115					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)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.L115S(1)		endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTGCAAGTGCAACATCCAAAA	0.502																																					p.L115S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T344C	19						.						121.0	108.0	112.0					19																	49247763		2203	4300	6503	53939575	SO:0001583	missense	284359	exon4			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.344T>C	19.37:g.49247763A>G	ENSP00000327786:p.Leu115Ser		53939575	NM_182575	Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287258	0.59867	.	.	ENSG00000182264	ENST00000332955	T	0.24350	1.86	5.21	5.21	0.72293	.	0.297589	0.21337	N	0.076197	T	0.45538	0.1347	L	0.58101	1.795	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.34354	-0.9832	10	0.87932	D	0	-17.0681	11.7745	0.51977	1.0:0.0:0.0:0.0	.	115	Q8IYV9	IZUM1_HUMAN	S	115	ENSP00000327786:L115S	ENSP00000327786:L115S	L	-	2	0	IZUMO1	53939575	0.037000	0.19845	0.077000	0.20336	0.060000	0.15804	4.180000	0.58296	2.094000	0.63399	0.459000	0.35465	TTG		0.502	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575	
PPP1R15A	23645	broad.mit.edu	37	19	49377231	49377231	+	Silent	SNP	C	C	T	rs141730546	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:49377231C>T	ENST00000200453.5	+	2	1010	c.741C>T	c.(739-741)tcC>tcT	p.S247S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	247	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.S247S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGAAGACCTCCGTGTCCCCCC	0.557																																					p.S247S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C741T	19						.						61.0	73.0	69.0					19																	49377231		2203	4300	6503	54069043	SO:0001819	synonymous_variant	23645	exon2			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.741C>T	19.37:g.49377231C>T			54069043	NM_014330	B4DKQ3|Q6IA96|Q9NVU6	Silent	SNP	ENST00000200453.5	37	CCDS12738.1																																																																																				0.557	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330	
TULP2	7288	broad.mit.edu	37	19	49391412	49391412	+	Missense_Mutation	SNP	G	G	A	rs139008587	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:49391412G>A	ENST00000221399.3	-	8	887	c.743C>T	c.(742-744)aCg>aTg	p.T248M		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	248					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)	p.T248M(1)		NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GTCGCTGTCCGTGCCACCCTC	0.607													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19309	0.0		0.001	False		,,,				2504	0.0				p.T248M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C743T	19						.	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	97.0	64.0	75.0		743	-2.5	0.0	19	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TULP2	NM_003323.2	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	248/521	49391412	2,13004	2203	4300	6503	54083224	SO:0001583	missense	7288	exon8			U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.743C>T	19.37:g.49391412G>A	ENSP00000221399:p.Thr248Met		54083224	NM_003323	Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	CCDS12739.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	12.56	1.973841	0.34848	2.27E-4	1.16E-4	ENSG00000104804	ENST00000221399;ENST00000518572	D;T	0.83506	-1.73;2.17	4.03	-2.54	0.06307	.	9.154460	0.00166	N	0.000007	T	0.69324	0.3098	N	0.14661	0.345	0.09310	N	1	D	0.60160	0.987	P	0.46049	0.502	T	0.62062	-0.6933	10	0.45353	T	0.12	7.382	0.3462	0.00341	0.3113:0.1505:0.3112:0.227	.	248	O00295	TULP2_HUMAN	M	248;202	ENSP00000221399:T248M;ENSP00000428420:T202M	ENSP00000221399:T248M	T	-	2	0	TULP2	54083224	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.236000	0.09003	-0.325000	0.08577	-0.261000	0.10672	ACG		0.607	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323	
IRF3	3661	broad.mit.edu	37	19	50166695	50166695	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:50166695C>T	ENST00000597198.1	-	3	623	c.242G>A	c.(241-243)cGc>cAc	p.R81H	IRF3_ENST00000593922.1_5'UTR|BCL2L12_ENST00000246785.3_5'Flank|IRF3_ENST00000309877.7_Missense_Mutation_p.R81H|IRF3_ENST00000601291.1_Missense_Mutation_p.R81H|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000598808.1_5'UTR|BCL2L12_ENST00000441864.2_5'Flank|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000442265.2_Intron|IRF3_ENST00000599223.1_Missense_Mutation_p.R81H|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000600911.1_Missense_Mutation_p.R81H|IRF3_ENST00000377135.4_Missense_Mutation_p.R81H|IRF3_ENST00000377139.3_Missense_Mutation_p.R81H|BCL2L12_ENST00000246784.3_5'Flank			Q14653	IRF3_HUMAN	interferon regulatory factor 3	81					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.R81H(1)		breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		GAGGGCAGAGCGGAAATTCCT	0.567																																					p.R46H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G137A	19						.						65.0	58.0	61.0					19																	50166695		2203	4300	6503	54858507	SO:0001583	missense	3661	exon3				CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.242G>A	19.37:g.50166695C>T	ENSP00000469113:p.Arg81His		54858507	NM_001197123	A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	37	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453716	0.84209	.	.	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	D;D;D	0.98585	-5.01;-5.01;-5.01	4.92	4.92	0.64577	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99155	0.9708	M	0.92784	3.345	0.80722	D	1	D;D;D;P;D	0.89917	0.987;0.994;0.994;0.953;1.0	P;P;P;B;D	0.91635	0.551;0.47;0.47;0.215;0.999	D	0.99239	1.0884	10	0.87932	D	0	-26.1128	15.961	0.79930	0.0:1.0:0.0:0.0	.	81;81;81;81;81	B2RAZ3;Q96GL3;Q7Z5G6;Q14653;Q5FBY1	.;.;.;IRF3_HUMAN;.	H	81	ENSP00000366344:R81H;ENSP00000310127:R81H;ENSP00000366339:R81H	ENSP00000310127:R81H	R	-	2	0	IRF3	54858507	1.000000	0.71417	0.853000	0.33588	0.543000	0.35085	4.269000	0.58890	2.451000	0.82905	0.655000	0.94253	CGC		0.567	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571	
PNKP	11284	broad.mit.edu	37	19	50365835	50365835	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:50365835G>A	ENST00000322344.3	-	10	1005	c.896C>T	c.(895-897)cCg>cTg	p.P299L	AC018766.4_ENST00000596624.1_RNA|PNKP_ENST00000596014.1_Missense_Mutation_p.P299L|PNKP_ENST00000600573.1_Missense_Mutation_p.P299L|PNKP_ENST00000600910.1_Missense_Mutation_p.P299L	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	299	Phosphatase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.P299L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CTTCCGCCCCGGGGCCCAGTT	0.716								Other BER factors																													p.P299L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C896T	19						.						16.0	19.0	18.0					19																	50365835		2197	4290	6487	55057647	SO:0001583	missense	11284	exon10			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.896C>T	19.37:g.50365835G>A	ENSP00000323511:p.Pro299Leu		55057647	NM_007254	Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	37	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	G	35	5.529552	0.96446	.	.	ENSG00000039650	ENST00000322344	T	0.63913	-0.07	5.15	5.15	0.70609	HAD-like domain (2);Polynucleotide kinase 3 phosphatase, central region (1);	0.138776	0.48767	D	0.000165	T	0.78413	0.4279	M	0.85859	2.78	0.80722	D	1	D;D	0.69078	0.97;0.997	P;P	0.61328	0.458;0.887	T	0.81373	-0.0962	10	0.54805	T	0.06	-16.1878	14.1076	0.65101	0.0:0.0:1.0:0.0	.	260;299	Q9BUL2;Q96T60	.;PNKP_HUMAN	L	299	ENSP00000323511:P299L	ENSP00000323511:P299L	P	-	2	0	PNKP	55057647	1.000000	0.71417	0.941000	0.38009	0.917000	0.54804	6.156000	0.71840	2.395000	0.81488	0.561000	0.74099	CCG		0.716	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254	
SPIB	6689	broad.mit.edu	37	19	50926876	50926876	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:50926876G>A	ENST00000595883.1	+	5	379	c.354G>A	c.(352-354)ccG>ccA	p.P118P	SPIB_ENST00000596074.1_Missense_Mutation_p.G47S|SPIB_ENST00000597855.1_Intron|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.G253S|SPIB_ENST00000439922.2_Silent_p.P27P|SPIB_ENST00000270632.7_Silent_p.P118P	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	118					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P118P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TGGTTCCCCCGGCATATGCCC	0.647																																					p.P118P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G354A	19						.						59.0	49.0	53.0					19																	50926876		2203	4300	6503	55618688	SO:0001819	synonymous_variant	6689	exon5				CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.354G>A	19.37:g.50926876G>A			55618688	NM_003121	A8K9C9|B4DUG6|Q15359	Silent	SNP	ENST00000595883.1	37	CCDS33080.1																																																																																				0.647	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121	
SYT3	84258	broad.mit.edu	37	19	51128548	51128548	+	Silent	SNP	G	G	A	rs533895555		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:51128548G>A	ENST00000338916.4	-	7	2211	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	SYT3_ENST00000593901.1_Silent_p.I526I|SYT3_ENST00000544769.1_Silent_p.I526I|SYT3_ENST00000600079.1_Silent_p.I526I	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	526	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.I526I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CGTTGTGCCCGATGCTGGGGG	0.736													G|||	1	0.000199681	0.0	0.0	5008	,	,		11965	0.0		0.0	False		,,,				2504	0.001				p.I526I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1578T	19						.						11.0	11.0	11.0					19																	51128548		2151	4160	6311	55820360	SO:0001819	synonymous_variant	84258	exon7			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1578C>T	19.37:g.51128548G>A			55820360	NM_032298	Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	CCDS12798.1																																																																																				0.736	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298	
SHANK1	50944	broad.mit.edu	37	19	51175305	51175305	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:51175305G>A	ENST00000293441.1	-	21	2662	c.2644C>T	c.(2644-2646)Cct>Tct	p.P882S	SHANK1_ENST00000359082.3_Missense_Mutation_p.P873S|SHANK1_ENST00000391814.1_Missense_Mutation_p.P890S|SHANK1_ENST00000391813.1_Missense_Mutation_p.P269S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	882					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.P882S(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATCAACCCAGGTCCTGGAGGC	0.577																																					p.P882S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2644T	19						.						107.0	91.0	97.0					19																	51175305		2203	4300	6503	55867117	SO:0001583	missense	50944	exon21			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2644C>T	19.37:g.51175305G>A	ENSP00000293441:p.Pro882Ser		55867117	NM_016148	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181707	0.57800	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.38722	1.24;1.64;1.22;1.12	3.87	3.87	0.44632	.	1.972760	0.04376	N	0.359926	T	0.43322	0.1242	L	0.47190	1.495	0.39149	D	0.962181	P;P	0.47253	0.507;0.892	B;B	0.44224	0.116;0.444	T	0.48833	-0.9000	10	0.08381	T	0.77	-2.5979	15.1098	0.72346	0.0:0.0:1.0:0.0	.	882;269	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	S	882;269;873;890	ENSP00000293441:P882S;ENSP00000375689:P269S;ENSP00000351984:P873S;ENSP00000375690:P890S	ENSP00000293441:P882S	P	-	1	0	SHANK1	55867117	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.752000	0.55172	2.161000	0.67846	0.491000	0.48974	CCT		0.577	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
SIGLEC10	89790	broad.mit.edu	37	19	51919928	51919928	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:51919928C>T	ENST00000339313.5	-	3	814	c.698G>A	c.(697-699)cGt>cAt	p.R233H	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.R175H|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.R233H|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.R150H|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.R175H|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.R233H|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.R185H|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.R233H|CTD-2616J11.2_ENST00000532688.1_RNA|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.R175H			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	233					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R233H(1)|p.R175H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ACAGGCCACACGGAGTCGGAC	0.662																																					p.R233H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G698A	19						.						91.0	74.0	80.0					19																	51919928		2203	4300	6503	56611740	SO:0001583	missense	89790	exon3			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.698G>A	19.37:g.51919928C>T	ENSP00000345243:p.Arg233His		56611740	NM_001171157	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.872762	0.33069	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000529627	T;T;D;T;D;T;D;D;T;D	0.86230	1.05;2.18;-2.09;0.9;-2.09;1.91;-2.09;-2.09;0.9;-2.09	4.69	-2.31	0.06765	Immunoglobulin-like fold (1);	1.498280	0.03589	N	0.231483	T	0.77219	0.4098	L	0.28192	0.835	0.09310	N	1	B;B;B;B;B;B;B	0.33494	0.035;0.414;0.099;0.103;0.058;0.028;0.036	B;B;B;B;B;B;B	0.25405	0.016;0.034;0.031;0.035;0.06;0.013;0.011	T	0.65401	-0.6177	10	0.41790	T	0.15	.	8.438	0.32799	0.0:0.3321:0.0:0.6679	.	185;233;175;233;175;175;233	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	H	233;150;175;233;175;233;175;185;233;47	ENSP00000342389:R233H;ENSP00000396742:R150H;ENSP00000395475:R175H;ENSP00000348646:R233H;ENSP00000408387:R175H;ENSP00000431444:R233H;ENSP00000389132:R175H;ENSP00000414324:R185H;ENSP00000345243:R233H;ENSP00000435281:R47H	ENSP00000345243:R233H	R	-	2	0	SIGLEC10	56611740	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.683000	0.05179	-0.268000	0.09312	-0.657000	0.03884	CGT		0.662	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130	
ZNF528	84436	broad.mit.edu	37	19	52919045	52919045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:52919045C>T	ENST00000360465.3	+	7	1366	c.940C>T	c.(940-942)Cga>Tga	p.R314*	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R314*(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ACACCTTGTACGACATCAAAA	0.378																																					p.R314X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C940T	19						.						54.0	57.0	56.0					19																	52919045		2203	4300	6503	57610857	SO:0001587	stop_gained	84436	exon7			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.940C>T	19.37:g.52919045C>T	ENSP00000353652:p.Arg314*		57610857	NM_032423	B3KPN4|Q86T88|Q96JK0	Nonsense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208671	0.95069	.	.	ENSG00000167555	ENST00000360465	.	.	.	1.85	-0.971	0.10303	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	3.5391	0.07804	0.4448:0.2597:0.2955:0.0	.	.	.	.	X	314	.	ENSP00000353652:R314X	R	+	1	2	ZNF528	57610857	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-2.828000	0.00745	-0.086000	0.12550	0.491000	0.48974	CGA		0.378	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423	
ZNF468	90333	broad.mit.edu	37	19	53344762	53344762	+	Missense_Mutation	SNP	C	C	T	rs372954739		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:53344762C>T	ENST00000595646.1	-	4	905	c.785G>A	c.(784-786)cGt>cAt	p.R262H	ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.R209H|ZNF468_ENST00000396409.4_Missense_Mutation_p.R209H			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	262					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.R262H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GTGACATCTACGATGGCAGGC	0.393																																					p.R209H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G626A	19						.	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	127.0	113.0	117.0		785,626	0.6	0.0	19		117	1,8599	818.7+/-406.8	0,1,4299	no	missense,missense	ZNF468	NM_001008801.1,NM_199132.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	262/523,209/470	53344762	1,13005	2203	4300	6503	58036574	SO:0001583	missense	90333	exon5			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.785G>A	19.37:g.53344762C>T	ENSP00000470381:p.Arg262His		58036574	NM_199132	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	t	7.001	0.554846	0.13436	0.0	1.16E-4	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	T;T	0.07688	3.17;3.17	1.94	0.647	0.17796	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06005	0.0156	L	0.41415	1.275	0.09310	N	1	B	0.24882	0.113	B	0.10450	0.005	T	0.39354	-0.9618	9	0.36615	T	0.2	.	2.6819	0.05096	0.0:0.2445:0.2537:0.5018	.	262	Q5VIY5	ZN468_HUMAN	H	262;209;209;12	ENSP00000379690:R209H;ENSP00000445669:R209H	ENSP00000243639:R262H	R	-	2	0	ZNF468	58036574	0.000000	0.05858	0.004000	0.12327	0.288000	0.27193	-0.984000	0.03755	-0.038000	0.13624	0.174000	0.16983	CGT		0.393	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801	
ZNF321P	399669	broad.mit.edu	37	19	53432625	53432625	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:53432625G>A	ENST00000391777.3	-	4	354	c.233C>T	c.(232-234)gCg>gTg	p.A78V	ZNF816_ENST00000549216.1_Missense_Mutation_p.A9V|ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF816_ENST00000434371.2_Missense_Mutation_p.A78V			Q8N8H1	ZN321_HUMAN	zinc finger protein 321, pseudogene	9								p.A9G(1)|p.A9V(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						ATTGCCTTGCGCTGTGGATGA	0.353																																					p.A9V												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C26T	19						.						117.0	124.0	121.0					19																	53432625		2202	4298	6500	58124437	SO:0001583	missense	399669	exon2			AK096828		19q13.4	2013-01-08	2011-04-19	2011-04-19	ENSG00000221874	ENSG00000221874			13827	pseudogene	pseudogene			"""zinc finger protein 321"""	ZNF321			Standard	NR_037805		Approved	MGC35402		Q8N8H1	OTTHUMG00000167760	ENST00000391777.3:c.233C>T	19.37:g.53432625G>A	ENSP00000375656:p.Ala78Val		58124437	NM_203307	B7ZB38|Q68DZ0|Q86SS5	Missense_Mutation	SNP	ENST00000391777.3	37	CCDS56101.1	.	.	.	.	.	.	.	.	.	.	c	14.81	2.645407	0.47258	.	.	ENSG00000180257;ENSG00000180257;ENSG00000221874	ENST00000549216;ENST00000434371;ENST00000391777	T;T;T	0.01838	4.61;5.77;5.77	1.5	-3.01	0.05463	.	.	.	.	.	T	0.01661	0.0053	N	0.24115	0.695	0.09310	N	1	P	0.41597	0.756	B	0.43194	0.411	T	0.25916	-1.0118	9	0.30078	T	0.28	.	1.2856	0.02049	0.1543:0.3353:0.3112:0.1991	.	9	Q8N8H1	ZN321_HUMAN	V	9;78;78	ENSP00000449832:A9V;ENSP00000438519:A78V;ENSP00000375656:A78V	ENSP00000375656:A78V	A	-	2	0	ZNF321P;ZNF816	58124437	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.687000	0.05156	-2.078000	0.00872	-1.824000	0.00597	GCG		0.353	ZNF321P-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000396130.1	NR_037805	
ZNF665	79788	broad.mit.edu	37	19	53668755	53668755	+	Missense_Mutation	SNP	G	G	A	rs370811178		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:53668755G>A	ENST00000600412.1	-	2	908	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	ZNF665_ENST00000396424.3_Missense_Mutation_p.R330C|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R265C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AGGCTTGAGCGAACACTAAAG	0.428																																					p.R330C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C988T	19						.	G	CYS/ARG	0,4406		0,0,2203	118.0	123.0	121.0		988	-4.5	0.0	19		121	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZNF665	NM_024733.3	180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	330/679	53668755	1,13003	2203	4299	6502	58360567	SO:0001583	missense	79788	exon4				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.793C>T	19.37:g.53668755G>A	ENSP00000469154:p.Arg265Cys		58360567	NM_024733	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	G	8.649	0.897719	0.17686	0.0	1.16E-4	ENSG00000197497	ENST00000396424	T	0.01034	5.42	2.26	-4.52	0.03472	.	.	.	.	.	T	0.01940	0.0061	L	0.45051	1.395	0.09310	N	1	D	0.89917	1.0	D	0.65140	0.932	T	0.05801	-1.0863	9	0.35671	T	0.21	.	5.02	0.14356	0.1154:0.0925:0.5855:0.2067	.	330	Q9H7R5-2	.	C	330	ENSP00000379702:R330C	ENSP00000379702:R330C	R	-	1	0	ZNF665	58360567	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.287000	0.00072	-3.532000	0.00145	-0.694000	0.03704	CGC		0.428	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
NLRP12	91662	broad.mit.edu	37	19	54313911	54313911	+	Silent	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:54313911A>G	ENST00000324134.6	-	3	1170	c.1002T>C	c.(1000-1002)ccT>ccC	p.P334P	NLRP12_ENST00000535162.1_Silent_p.P334P|NLRP12_ENST00000351894.4_Silent_p.P334P|NLRP12_ENST00000391773.1_Silent_p.P334P|NLRP12_ENST00000345770.5_Silent_p.P334P|NLRP12_ENST00000354278.3_Silent_p.P334P|NLRP12_ENST00000391775.3_Silent_p.P334P|NLRP12_ENST00000391772.1_Silent_p.P334P	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	334	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.P334P(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)		AAGATAGCTCAGGGAGCAGCT	0.582																																					p.P334P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1002C	19						.						65.0	69.0	68.0					19																	54313911		2203	4300	6503	59005723	SO:0001819	synonymous_variant	91662	exon3			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1002T>C	19.37:g.54313911A>G			59005723	NM_144687	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	CCDS12864.1																																																																																				0.582	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
PRKCG	5582	broad.mit.edu	37	19	54401305	54401305	+	Silent	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:54401305A>G	ENST00000263431.3	+	10	1314	c.1032A>G	c.(1030-1032)ggA>ggG	p.G344G	PRKCG_ENST00000536044.1_Missense_Mutation_p.D315G|PRKCG_ENST00000542049.1_Silent_p.G231G|PRKCG_ENST00000540413.1_Silent_p.G344G	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	344					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.G344G(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CGAGTCCAGGACGCCTGCACA	0.607																																					p.G344G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1032G	19						.						53.0	52.0	52.0					19																	54401305		2203	4300	6503	59093117	SO:0001819	synonymous_variant	5582	exon10			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1032A>G	19.37:g.54401305A>G			59093117	NM_002739	B7Z8Q0	Silent	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.769767	0.49680	.	.	ENSG00000126583	ENST00000536044	T	0.78003	-1.14	5.14	-1.92	0.07618	.	.	.	.	.	T	0.57198	0.2037	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30851	-0.9964	7	.	.	.	.	5.1236	0.14873	0.3411:0.3738:0.2851:0.0	.	315	B7Z870	.	G	315	ENSP00000440541:D315G	.	D	+	2	0	PRKCG	59093117	0.817000	0.29147	0.976000	0.42696	0.778000	0.44026	0.041000	0.13927	-0.174000	0.10743	0.397000	0.26171	GAC		0.607	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
TTYH1	57348	broad.mit.edu	37	19	54930463	54930463	+	Silent	SNP	C	C	T	rs142265106	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:54930463C>T	ENST00000376530.3	+	2	391	c.288C>T	c.(286-288)gtC>gtT	p.V96V	TTYH1_ENST00000301194.4_Silent_p.V96V|TTYH1_ENST00000391739.3_Silent_p.V145V|TTYH1_ENST00000376531.3_Silent_p.V96V	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	96					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)	p.V96V(3)		endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GCTGCATTGTCGCCCTTCTCG	0.711																																					p.V96V												.	.	3	Substitution - coding silent(3)	endometrium(2)|large_intestine(1)	c.C288T	19						.						18.0	22.0	21.0					19																	54930463		2196	4289	6485	59622275	SO:0001819	synonymous_variant	57348	exon2			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.288C>T	19.37:g.54930463C>T			59622275	NM_001005367	B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Silent	SNP	ENST00000376530.3	37	CCDS12893.1																																																																																				0.711	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1		
CCDC106	29903	broad.mit.edu	37	19	56160579	56160579	+	Missense_Mutation	SNP	G	G	A	rs374002589		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:56160579G>A	ENST00000586790.1	+	2	944	c.40G>A	c.(40-42)Gat>Aat	p.D14N	CCDC106_ENST00000591241.1_Intron|CCDC106_ENST00000588740.1_Missense_Mutation_p.D14N|CCDC106_ENST00000591578.1_Missense_Mutation_p.D14N|CCDC106_ENST00000308964.3_Missense_Mutation_p.D14N			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	14						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D14N(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGTGAAGGACGATGAGACCTT	0.612																																					p.D14N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G40A	19						.	G	ASN/ASP	0,4406		0,0,2203	95.0	96.0	96.0		40	-0.1	0.7	19		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC106	NM_013301.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	14/281	56160579	1,13005	2203	4300	6503	60852391	SO:0001583	missense	29903	exon3			AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.40G>A	19.37:g.56160579G>A	ENSP00000465757:p.Asp14Asn		60852391	NM_013301	B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853734	0.32791	0.0	1.16E-4	ENSG00000173581	ENST00000308964	.	.	.	3.5	-0.12	0.13539	.	0.581171	0.16520	N	0.210853	T	0.23572	0.0570	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04454	-1.0950	9	0.22109	T	0.4	-28.613	2.9816	0.05955	0.2406:0.0:0.5473:0.2122	.	14	Q9BWC9	CC106_HUMAN	N	14	.	ENSP00000309681:D14N	D	+	1	0	CCDC106	60852391	1.000000	0.71417	0.739000	0.30968	0.912000	0.54170	2.893000	0.48633	-0.019000	0.14055	0.561000	0.74099	GAT		0.612	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301	
GTF2F1	2962	broad.mit.edu	37	19	6380372	6380372	+	Missense_Mutation	SNP	C	C	T	rs199893553		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:6380372C>T	ENST00000394456.5	-	13	1938	c.1474G>A	c.(1474-1476)Gtg>Atg	p.V492M	GTF2F1_ENST00000429701.2_Missense_Mutation_p.V407M|PSPN_ENST00000597721.1_5'Flank	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	492					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|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 viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.V492M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						TGGGCCAACACGTTCACTGTC	0.552																																					p.V492M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1474A	19						.						247.0	226.0	233.0					19																	6380372		2203	4300	6503	6331372	SO:0001583	missense	2962	exon13				CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.1474G>A	19.37:g.6380372C>T	ENSP00000377969:p.Val492Met		6331372	NM_002096	B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	37	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045800	0.75846	.	.	ENSG00000125651	ENST00000394456;ENST00000429701	T;T	0.45668	0.89;0.89	4.62	4.62	0.57501	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.61223	0.2330	M	0.62723	1.935	0.58432	D	0.999995	P;D;D	0.89917	0.926;1.0;0.999	B;D;D	0.74674	0.185;0.984;0.971	T	0.60667	-0.7218	10	0.44086	T	0.13	-54.9666	16.7748	0.85548	0.0:1.0:0.0:0.0	.	407;390;492	E7EUG6;B4DDB5;P35269	.;.;T2FA_HUMAN	M	492;407	ENSP00000377969:V492M;ENSP00000392107:V407M	ENSP00000377969:V492M	V	-	1	0	GTF2F1	6331372	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	4.263000	0.58853	2.566000	0.86566	0.655000	0.94253	GTG		0.552	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096	
NLRP4	147945	broad.mit.edu	37	19	56369923	56369923	+	Silent	SNP	G	G	A	rs370158529		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:56369923G>A	ENST00000301295.6	+	3	1586	c.1164G>A	c.(1162-1164)ccG>ccA	p.P388P	NLRP4_ENST00000346986.5_Silent_p.P388P|NLRP4_ENST00000587891.1_Silent_p.P313P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	388	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.P388P(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)		CCGAGGGCCCGACTCCGCAAA	0.562																																					p.P388P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1164A	19						.	G		0,4406		0,0,2203	59.0	58.0	58.0		1164	-6.8	0.0	19		58	1,8599		0,1,4299	no	coding-synonymous	NLRP4	NM_134444.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		388/995	56369923	1,13005	2203	4300	6503	61061735	SO:0001819	synonymous_variant	147945	exon3			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1164G>A	19.37:g.56369923G>A			61061735	NM_134444	Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	CCDS12936.1																																																																																				0.562	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
ZNF8	7554	broad.mit.edu	37	19	58805993	58805993	+	Silent	SNP	C	C	T	rs142154798		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:58805993C>T	ENST00000196548.5	+	4	950	c.819C>T	c.(817-819)acC>acT	p.T273T	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Silent_p.T273T			P17098	ZNF8_HUMAN	zinc finger protein 8	273					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T273T(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CACACCTCACCGTGCACAAGA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		22312	0.001		0.0	False		,,,				2504	0.0				p.T273T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C819T	19						.	C		3,4403	6.2+/-15.9	0,3,2200	88.0	83.0	85.0		819	-8.0	0.5	19	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous	ZNF8	NM_021089.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		273/576	58805993	3,13003	2203	4300	6503	63497805	SO:0001819	synonymous_variant	7554	exon4			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.819C>T	19.37:g.58805993C>T			63497805	NM_021089	Q6PI99	Silent	SNP	ENST00000196548.5	37	CCDS12974.1																																																																																				0.502	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089	
GZMM	3004	broad.mit.edu	37	19	544110	544110	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:544110delG	ENST00000264553.3	+	1	77	c.39delG	c.(37-39)ctgfs	p.L13fs		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	13					apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A15fs*4(1)		endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGGCCCTGGGGGCCCTGT	0.726																																					p.L13fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.39delG	19						.						12.0	10.0	10.0					19																	544110		2132	4165	6297	495110	SO:0001589	frameshift_variant	3004	exon1				CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540			4712	protein-coding gene	gene with protein product	"""lymphocyte met-ase 1"""	600311				8119738	Standard	NM_005317		Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.39delG	19.37:g.544110delG	ENSP00000264553:p.Leu13fs		495110	NM_005317		Frame_Shift_Del	DEL	ENST00000264553.3	37	CCDS12031.1																																																																																				0.726	GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451895.2	NM_005317	
CNN2	1265	broad.mit.edu	37	19	1036152	1036152	+	Silent	SNP	C	C	T	rs146615344		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:1036152C>T	ENST00000263097.4	+	5	777	c.414C>T	c.(412-414)agC>agT	p.S138S	CNN2_ENST00000562958.2_Silent_p.S159S|CNN2_ENST00000565096.2_Silent_p.S127S|CNN2_ENST00000606983.1_Intron|CNN2_ENST00000348419.3_Intron|AC011558.5_ENST00000585757.1_RNA	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	138					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)	p.S138S(1)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGCAGAGCGGGGTGGACA	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16848	0.0		0.0	False		,,,				2504	0.0				p.S138S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T	19						.	C	,	5,4401	9.9+/-24.2	0,5,2198	35.0	33.0	34.0		414,	-7.3	0.0	19	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous,intron	CNN2	NM_004368.2,NM_201277.1	,	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	,	138/310,	1036152	5,13001	2203	4300	6503	987152	SO:0001819	synonymous_variant	1265	exon5			D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.414C>T	19.37:g.1036152C>T			987152	NM_004368	A5D8U8|A6NFI4|D6W5X9|Q92578	Silent	SNP	ENST00000263097.4	37	CCDS12053.1																																																																																				0.647	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368	
DENND1C	79958	broad.mit.edu	37	19	6467848	6467848	+	Silent	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:6467848T>C	ENST00000381480.2	-	23	2185	c.2073A>G	c.(2071-2073)gaA>gaG	p.E691E	DENND1C_ENST00000543576.1_Silent_p.E647E	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	691					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E691E(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CTGTAGAATCTTCAGCTGCCT	0.587																																					p.E691E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2073G	19						.						29.0	30.0	30.0					19																	6467848		1900	4116	6016	6418848	SO:0001819	synonymous_variant	79958	exon23			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.2073A>G	19.37:g.6467848T>C			6418848	NM_024898	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Silent	SNP	ENST00000381480.2	37	CCDS45938.1																																																																																				0.587	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898	
TUBB4A	10382	broad.mit.edu	37	19	6495458	6495458	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:6495458G>A	ENST00000264071.2	-	4	1423	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.T351M			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	351					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.T351M(1)									GCACACGGCCGTCTTCACGTT	0.627																																					p.T351M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1052T	19						.						180.0	149.0	159.0					19																	6495458		2203	4300	6503	6446458	SO:0001583	missense	10382	exon4			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1052C>T	19.37:g.6495458G>A	ENSP00000264071:p.Thr351Met		6446458	NM_006087	B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.582079	0.46006	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.81821	-1.54;-1.54	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000002	D	0.91064	0.7188	H	0.96430	3.82	0.53688	D	0.999972	D	0.56521	0.976	P	0.58660	0.843	D	0.93732	0.7042	10	0.87932	D	0	.	13.6752	0.62449	0.0:0.0:1.0:0.0	.	351	P04350	TBB4A_HUMAN	M	351;351;269	ENSP00000264071:T351M;ENSP00000443590:T351M	ENSP00000264071:T351M	T	-	2	0	TUBB4	6446458	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.620000	0.74224	1.473000	0.48159	0.306000	0.20318	ACG		0.627	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087	
INSR	3643	broad.mit.edu	37	19	7117191	7117191	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:7117191delC	ENST00000302850.5	-	22	4167	c.4025delG	c.(4024-4026)ggcfs	p.G1342fs	INSR_ENST00000341500.5_Frame_Shift_Del_p.G1330fs	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1342					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.G1342fs*23(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCCATCCCGGCCCCCCGCCTC	0.592																																					p.G1342fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4025delG	19						.						78.0	70.0	73.0					19																	7117191		2203	4300	6503	7068191	SO:0001589	frameshift_variant	3643	exon22			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.4025delG	19.37:g.7117191delC	ENSP00000303830:p.Gly1342fs		7068191	NM_000208	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Frame_Shift_Del	DEL	ENST00000302850.5	37	CCDS12176.1																																																																																				0.592	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		
MCOLN1	57192	broad.mit.edu	37	19	7591677	7591677	+	Silent	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:7591677C>A	ENST00000264079.6	+	4	561	c.436C>A	c.(436-438)Cgg>Agg	p.R146R		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	146					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)	p.R146R(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCACTGGGCCGGTATGCGTA	0.667																																					p.R146R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C436A	19						.						119.0	82.0	95.0					19																	7591677		2203	4300	6503	7497677	SO:0001819	synonymous_variant	57192	exon4			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.436C>A	19.37:g.7591677C>A			7497677	NM_020533	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Silent	SNP	ENST00000264079.6	37	CCDS12180.1																																																																																				0.667	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533	
CAMSAP3	57662	broad.mit.edu	37	19	7670119	7670119	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:7670119G>A	ENST00000160298.4	+	2	257	c.156G>A	c.(154-156)gtG>gtA	p.V52V	CAMSAP3_ENST00000446248.2_Silent_p.V52V	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	52					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.V52V(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CAGAGCACGTGCCCCCGGAGC	0.612																																					p.V52V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G156A	19						.						107.0	117.0	114.0					19																	7670119		2015	4181	6196	7576119	SO:0001819	synonymous_variant	57662	exon2			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.156G>A	19.37:g.7670119G>A			7576119	NM_001080429	Q8NDF1	Silent	SNP	ENST00000160298.4	37	CCDS42489.1																																																																																				0.612	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362	
CD209	30835	broad.mit.edu	37	19	7809880	7809880	+	Missense_Mutation	SNP	C	C	T	rs139712001		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:7809880C>T	ENST00000315599.7	-	5	869	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CD209_ENST00000593660.1_Missense_Mutation_p.A213T|CD209_ENST00000354397.6_Missense_Mutation_p.A283T|CD209_ENST00000602261.1_Missense_Mutation_p.A191T|CD209_ENST00000394161.5_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.A259T|CD209_ENST00000394173.4_Missense_Mutation_p.A122T|CD209_ENST00000301357.8_Missense_Mutation_p.A147T|CD209_ENST00000593821.1_Missense_Mutation_p.A147T|CD209_ENST00000601256.1_Missense_Mutation_p.A259T|CD209_ENST00000204801.8_Missense_Mutation_p.A239T|CD209_ENST00000601951.1_Missense_Mutation_p.A259T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	283	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	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)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.A283T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTTTGCAGGCGGTGATGGAG	0.582													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17657	0.0		0.0	False		,,,				2504	0.0				p.A239T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G715A	19						.	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	4,4402	9.9+/-24.2	0,4,2199	85.0	81.0	82.0		439,715,571,775,847,364,847	-0.1	0.0	19	dbSNP_134	82	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense,missense,missense	CD209	NM_001144893.1,NM_001144894.1,NM_001144895.1,NM_001144896.1,NM_001144897.1,NM_001144899.1,NM_021155.3	58,58,58,58,58,58,58	0,8,6495	TT,TC,CC		0.0465,0.0908,0.0615	benign,benign,benign,benign,benign,benign,benign	147/269,239/361,191/313,259/381,283/399,122/244,283/405	7809880	8,12998	2203	4300	6503	7715880	SO:0001583	missense	30835	exon3			M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.847G>A	19.37:g.7809880C>T	ENSP00000315477:p.Ala283Thr		7715880	NM_001144894	A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007084	0.35415	9.08E-4	4.65E-4	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	3.29	-0.0555	0.13809	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.27169	0.0666	L	0.45581	1.43	0.09310	N	1	D;D;P;D;P;P;D;D;D;P;D	0.89917	1.0;1.0;0.955;0.998;0.909;0.918;0.98;1.0;0.999;0.956;1.0	D;D;P;D;B;P;B;D;D;B;D	0.97110	0.955;0.967;0.799;0.964;0.234;0.522;0.421;1.0;0.951;0.345;0.996	T	0.13176	-1.0519	9	0.87932	D	0	.	2.7211	0.05201	0.2253:0.5221:0.0:0.2526	.	283;283;259;239;147;259;191;283;213;259;283	B2R907;Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	T	283;283;259;239;191;147;267	ENSP00000315477:A283T;ENSP00000346373:A283T;ENSP00000315407:A259T;ENSP00000204801:A239T;ENSP00000301357:A147T	ENSP00000204801:A239T	A	-	1	0	CD209	7715880	0.006000	0.16342	0.007000	0.13788	0.027000	0.11550	-0.132000	0.10467	0.085000	0.17107	0.455000	0.32223	GCC		0.582	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155	
FBN3	84467	broad.mit.edu	37	19	8181654	8181654	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:8181654C>T	ENST00000600128.1	-	29	4030	c.3616G>A	c.(3616-3618)Gtt>Att	p.V1206I	FBN3_ENST00000270509.2_Missense_Mutation_p.V1206I|FBN3_ENST00000601739.1_Missense_Mutation_p.V1206I			Q75N90	FBN3_HUMAN	fibrillin 3	1206	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.V1206I(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						TGGTCACAAACGCGGGGGTTC	0.587																																					p.V1206I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3616A	19						.						100.0	84.0	89.0					19																	8181654		2203	4300	6503	8087654	SO:0001583	missense	84467	exon28				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.3616G>A	19.37:g.8181654C>T	ENSP00000470498:p.Val1206Ile		8087654	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.453056	0.00175	.	.	ENSG00000142449	ENST00000270509	D	0.92299	-3.01	3.98	-0.737	0.11129	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.198206	0.43110	N	0.000615	T	0.70046	0.3179	N	0.00985	-1.075	0.20563	N	0.999889	B	0.06786	0.001	B	0.04013	0.001	T	0.63972	-0.6516	10	0.02654	T	1	.	9.8398	0.40991	0.0:0.3421:0.0:0.6579	.	1206	Q75N90	FBN3_HUMAN	I	1206	ENSP00000270509:V1206I	ENSP00000270509:V1206I	V	-	1	0	FBN3	8087654	0.765000	0.28485	0.017000	0.16124	0.001000	0.01503	1.040000	0.30278	-0.463000	0.06973	-1.336000	0.01259	GTT		0.587	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
ZNF558	148156	broad.mit.edu	37	19	8931929	8931929	+	Silent	SNP	C	C	T	rs373869285		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:8931929C>T	ENST00000601372.1	-	7	885	c.174G>A	c.(172-174)gcG>gcA	p.A58A	ZNF558_ENST00000599938.1_5'Flank|CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000301475.1_Silent_p.A58A|ZNF558_ENST00000444186.2_5'UTR			Q96NG5	ZN558_HUMAN	zinc finger protein 558	58	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.A58A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						GGTCCAGCAACGCCCACTCCT	0.547																																					p.A58A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G174A	19						.	C		2,4404	4.2+/-10.8	0,2,2201	162.0	138.0	146.0		174	-6.1	0.3	19		146	0,8600		0,0,4300	no	coding-synonymous	ZNF558	NM_144693.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		58/403	8931929	2,13004	2203	4300	6503	8792929	SO:0001819	synonymous_variant	148156	exon3			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.174G>A	19.37:g.8931929C>T			8792929	NM_144693	A8K5F0|B7Z798	Silent	SNP	ENST00000601372.1	37	CCDS12208.1																																																																																				0.547	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693	
MUC16	94025	broad.mit.edu	37	19	9056821	9056821	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:9056821delT	ENST00000397910.4	-	3	30828	c.30625delA	c.(30625-30627)acafs	p.T10209fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10211	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.T10209fs*19(1)|p.T5842fs*19(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						GGGGATGATGTTTTTGCAGAA	0.478																																					p.T10209fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.30625delA	19						.						132.0	130.0	131.0					19																	9056821		1952	4161	6113	8917821	SO:0001589	frameshift_variant	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30625delA	19.37:g.9056821delT	ENSP00000381008:p.Thr10209fs		8917821	NM_024690	Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF317	57693	broad.mit.edu	37	19	9266712	9266712	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:9266712C>T	ENST00000247956.6	+	2	325	c.20C>T	c.(19-21)aCa>aTa	p.T7I	ZNF317_ENST00000360385.3_Missense_Mutation_p.T7I	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	7					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.T7I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CTGTCCCCCACATTTGGTAAG	0.547																																					p.T7I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C20T	19						.						115.0	93.0	100.0					19																	9266712		2203	4300	6503	9127712	SO:0001583	missense	57693	exon2			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.20C>T	19.37:g.9266712C>T	ENSP00000247956:p.Thr7Ile		9127712	NM_001190791	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	C	7.158	0.585216	0.13749	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.07800	3.49;3.16	2.95	1.9	0.25705	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	P;B	0.36909	0.573;0.437	B;B	0.30646	0.118;0.055	T	0.38156	-0.9674	9	0.62326	D	0.03	-0.5395	5.827	0.18558	0.0:0.8507:0.0:0.1493	.	7;7	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	I	7	ENSP00000247956:T7I;ENSP00000353554:T7I	ENSP00000247956:T7I	T	+	2	0	ZNF317	9127712	0.010000	0.17322	0.244000	0.24202	0.353000	0.29299	0.196000	0.17176	0.813000	0.34350	0.460000	0.39030	ACA		0.547	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933	
OLFM2	93145	broad.mit.edu	37	19	9971411	9971411	+	Silent	SNP	G	G	A	rs201897414	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:9971411G>A	ENST00000264833.4	-	2	308	c.123C>T	c.(121-123)gaC>gaT	p.D41D	OLFM2_ENST00000590841.1_5'Flank	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	41					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.D41D(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TGCATTTCCCGTCAGGGGCCT	0.607													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18185	0.001		0.0	False		,,,				2504	0.0				p.D41D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C123T	19						.						33.0	30.0	31.0					19																	9971411		2203	4300	6503	9832411	SO:0001819	synonymous_variant	93145	exon2			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.123C>T	19.37:g.9971411G>A			9832411	NM_058164	Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	CCDS12221.1																																																																																				0.607	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1		
ICAM4	3386	broad.mit.edu	37	19	10397719	10397719	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:10397719delT	ENST00000380770.3	+	1	77	c.31delT	c.(31-33)tttfs	p.F12fs	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000393717.2_Frame_Shift_Del_p.F12fs|ICAM5_ENST00000221980.4_5'Flank|ICAM4_ENST00000340992.4_Frame_Shift_Del_p.F12fs|CTD-2369P2.8_ENST00000589379.1_RNA	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	12					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)	p.L13fs*40(1)		breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GTCGCTGCTGTTTTTTTTGGC	0.677																																					p.F11fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.31delT	19						.		,,	86,37,3567		4,0,78,6,25,1732	7.0	11.0	9.0		,,	-0.8	0.0	19	dbSNP_129	10	136,75,7175		4,1,127,2,70,3489	no	codingComplex,codingComplex,codingComplex	ICAM4	NM_022377.3,NM_001544.4,NM_001039132.2	,,	8,1,205,8,95,5221	A1A1,A1A2,A1R,A2A2,A2R,RR		2.8568,3.3333,3.0155	,,	,,	10397719	222,112,10742	1977	3930	5907	10258719	SO:0001589	frameshift_variant	3386	exon1			X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.31delT	19.37:g.10397719delT	ENSP00000370147:p.Phe12fs		10258719	NM_001544	A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Frame_Shift_Del	DEL	ENST00000380770.3	37	CCDS12232.1																																																																																				0.677	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544	
JAK3	3718	broad.mit.edu	37	19	17955112	17955112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:17955112delG	ENST00000527670.1	-	1	144	c.115delC	c.(115-117)cagfs	p.Q39fs	JAK3_ENST00000534444.1_Frame_Shift_Del_p.Q39fs|JAK3_ENST00000458235.1_Frame_Shift_Del_p.Q39fs|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	39	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.Q39fs*108(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GATAGGCGCTGGGGGGGCCCG	0.662		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																p.Q39fs			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.115delC	19						.						13.0	15.0	14.0					19																	17955112		2197	4293	6490	17816112	SO:0001589	frameshift_variant	3718	exon2			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.115delC	19.37:g.17955112delG	ENSP00000432511:p.Gln39fs		17816112	NM_000215	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Frame_Shift_Del	DEL	ENST00000527670.1	37	CCDS12366.1																																																																																				0.662	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	
APOC1	341	broad.mit.edu	37	19	45419513	45419514	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:45419513_45419514delAC	ENST00000588750.1	+	4	450_451	c.125_126delAC	c.(124-126)aacfs	p.N42fs	APOC1_ENST00000588802.1_Frame_Shift_Del_p.N42fs|APOC1_ENST00000589781.1_Intron|APOC1_ENST00000586638.1_Frame_Shift_Del_p.N42fs|APOC1_ENST00000252491.4_Frame_Shift_Del_p.N42fs|APOC1_ENST00000592885.1_Frame_Shift_Del_p.N42fs			P02654	APOC1_HUMAN	apolipoprotein C-I	42					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phosphatidylcholine catabolic process (GO:0010900)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|plasma lipoprotein particle remodeling (GO:0034369)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|regulation of cholesterol transport (GO:0032374)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)|very-low-density lipoprotein particle clearance (GO:0034447)	chylomicron (GO:0042627)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	fatty acid binding (GO:0005504)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipase inhibitor activity (GO:0004859)	p.L44fs*15(1)		cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GAGTTTGGAAACACACTGGAGG	0.569																																					p.42_42del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.125_126del	19						.																																			50111354	SO:0001589	frameshift_variant	341	exon3			X00570	CCDS12648.1	19q13.2	2013-01-24				ENSG00000130208		"""Apolipoproteins"""	607	protein-coding gene	gene with protein product		107710					Standard	NM_001645		Approved		uc002pae.1	P02654		ENST00000588750.1:c.125_126delAC	19.37:g.45419517_45419518delAC	ENSP00000465356:p.Asn42fs		50111353	NM_001645	B2R526|Q6IB97	Frame_Shift_Del	DEL	ENST00000588750.1	37	CCDS12648.1																																																																																				0.569	APOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453245.1		
CLPTM1	1209	broad.mit.edu	37	19	45489815	45489815	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:45489815delC	ENST00000337392.5	+	7	925	c.775delC	c.(775-777)cccfs	p.P261fs	CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000541297.2_Frame_Shift_Del_p.P247fs|CLPTM1_ENST00000546079.1_Frame_Shift_Del_p.P159fs	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	261					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.P260fs*7(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GGGCAGTGTGCCCCCTCCCCT	0.617																																					p.P259fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.775delC	19						.						124.0	97.0	106.0					19																	45489815		2203	4300	6503	50181655	SO:0001589	frameshift_variant	1209	exon7			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.775delC	19.37:g.45489815delC	ENSP00000336994:p.Pro261fs		50181655	NM_001294	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Frame_Shift_Del	DEL	ENST00000337392.5	37	CCDS12651.1																																																																																				0.617	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294	
MYH14	79784	broad.mit.edu	37	19	50758572	50758572	+	Intron	DEL	G	G	-	rs75915336	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:50758572delG	ENST00000596571.1	+	15	1921				MYH14_ENST00000376970.2_Frame_Shift_Del_p.G673fs|MYH14_ENST00000440075.2_Frame_Shift_Del_p.G681fs|MYH14_ENST00000262269.8_Frame_Shift_Del_p.G681fs|MYH14_ENST00000425460.1_Intron|MYH14_ENST00000601313.1_Frame_Shift_Del_p.G681fs|MYH14_ENST00000598205.1_Intron			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle						actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.V682fs*10(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TTCTCCGCCAGGGGGTGGGTG	0.607																																					p.G681fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2041delG	19						.						55.0	51.0	52.0					19																	50758572		692	1591	2283	55450384	SO:0001627	intron_variant	79784	exon17			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1922-1984G>-	19.37:g.50758572delG			55450384	NM_001145809	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Frame_Shift_Del	DEL	ENST00000596571.1	37	CCDS59411.1																																																																																				0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729	
TRIM28	10155	broad.mit.edu	37	19	59061325	59061325	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr19:59061325C>T	ENST00000253024.5	+	15	2405	c.2116C>T	c.(2116-2118)Cgt>Tgt	p.R706C	TRIM28_ENST00000341753.6_Missense_Mutation_p.R624C	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	706	Bromo.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R706C(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GAAATGTGAGCGTGTACTGCT	0.572																																					p.R706C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2116T	19						.						100.0	88.0	92.0					19																	59061325		2203	4300	6503	63753137	SO:0001583	missense	10155	exon15				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.2116C>T	19.37:g.59061325C>T	ENSP00000253024:p.Arg706Cys		63753137	NM_005762	O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730688	0.48939	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.44881	0.91;0.91	4.75	4.75	0.60458	Bromodomain (2);	0.182580	0.35320	N	0.003281	T	0.57036	0.2026	L	0.43923	1.385	0.49582	D	0.999808	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.972;0.986	T	0.59364	-0.7468	10	0.87932	D	0	-17.2325	15.6482	0.77070	0.0:1.0:0.0:0.0	.	624;706;706	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	C	706;624	ENSP00000253024:R706C;ENSP00000342232:R624C	ENSP00000253024:R706C	R	+	1	0	TRIM28	63753137	0.998000	0.40836	1.000000	0.80357	0.251000	0.25915	1.833000	0.39161	2.643000	0.89663	0.443000	0.29094	CGT		0.572	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762	
VPS13B	157680	broad.mit.edu	37	8	100830682	100830682	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:100830682C>T	ENST00000358544.2	+	46	8551	c.8440C>T	c.(8440-8442)Cca>Tca	p.P2814S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P2789S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2814					protein transport (GO:0015031)			p.P2814S(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGTGCAGGTGCCATCTTCAAA	0.373																																					p.P2789S	Colon(161;2205 2542 7338 31318)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8365T	8						.						138.0	127.0	131.0					8																	100830682		2203	4300	6503	100899858	SO:0001583	missense	157680	exon46			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8440C>T	8.37:g.100830682C>T	ENSP00000351346:p.Pro2814Ser		100899858	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562322	0.65538	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.73258	-0.73;-0.73	5.38	5.38	0.77491	.	0.127115	0.52532	N	0.000070	T	0.71169	0.3308	N	0.17082	0.46	0.80722	D	1	P;D	0.65815	0.927;0.995	P;P	0.57425	0.508;0.82	T	0.75110	-0.3433	10	0.54805	T	0.06	.	19.1314	0.93408	0.0:1.0:0.0:0.0	.	2789;2814	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	S	2789;2814	ENSP00000349685:P2789S;ENSP00000351346:P2814S	ENSP00000349685:P2789S	P	+	1	0	VPS13B	100899858	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.662000	0.68032	2.523000	0.85059	0.650000	0.86243	CCA		0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
RP1L1	94137	broad.mit.edu	37	8	10470414	10470414	+	Silent	SNP	G	G	A	rs368122675		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:10470414G>A	ENST00000382483.3	-	4	1417	c.1194C>T	c.(1192-1194)ggC>ggT	p.G398G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	398					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.G398G(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGCTGCCCGCCTCGGCCAA	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16386	0.0		0.0	False		,,,				2504	0.0				p.G398G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1194T	8						.	G		6,3846		0,6,1920	43.0	50.0	48.0		1194	-1.1	0.0	8		48	1,8227		0,1,4113	no	coding-synonymous	RP1L1	NM_178857.5		0,7,6033	AA,AG,GG		0.0122,0.1558,0.0579		398/2401	10470414	7,12073	1926	4114	6040	10507824	SO:0001819	synonymous_variant	94137	exon4			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1194C>T	8.37:g.10470414G>A			10507824	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																				0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
PINX1	54984	broad.mit.edu	37	8	10623424	10623424	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:10623424G>A	ENST00000314787.3	-	7	593	c.474C>T	c.(472-474)ggC>ggT	p.G158G	PINX1_ENST00000519088.1_Nonsense_Mutation_p.R133*|CTD-2135J3.3_ENST00000519568.1_RNA|CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000553390.1_Intron|PINX1_ENST00000426190.2_Nonsense_Mutation_p.R131*|SOX7_ENST00000554914.1_Intron	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	158					mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)	p.G158G(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GACTGGCATCGCCCTATGGTG	0.582																																					p.G158G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C474T	8						.						113.0	120.0	118.0					8																	10623424		2101	4219	6320	10660834	SO:0001819	synonymous_variant	54984	exon7			AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.474C>T	8.37:g.10623424G>A			10660834	NM_017884	B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Nonsense_Mutation	SNP	ENST00000314787.3	37	CCDS47801.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712113	0.30322	.	.	ENSG00000254093	ENST00000426190;ENST00000519088	.	.	.	5.7	-7.92	0.01160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	2.8142	0.05451	0.2043:0.3359:0.3394:0.1204	.	.	.	.	X	131;133	.	ENSP00000411396:R131X	R	-	1	2	PINX1	10660834	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.004000	0.03678	-0.884000	0.03976	-0.302000	0.09304	CGA		0.582	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1	NM_017884	
XKR6	286046	broad.mit.edu	37	8	10782208	10782208	+	Silent	SNP	G	G	A	rs149808365		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:10782208G>A	ENST00000416569.2	-	2	923	c.897C>T	c.(895-897)agC>agT	p.S299S	XKR6_ENST00000304437.2_Silent_p.S20S	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	299						integral component of membrane (GO:0016021)		p.S299S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GTTGGGGCGCGCTCTCCAGGA	0.642													g|||	1	0.000199681	0.0008	0.0	5008	,	,		15690	0.0		0.0	False		,,,				2504	0.0				p.S299S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C897T	8						.			2,4404	4.2+/-10.8	0,2,2201	94.0	89.0	91.0		897	3.8	1.0	8	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous	XKR6	NM_173683.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		299/642	10782208	2,13004	2203	4300	6503	10819618	SO:0001819	synonymous_variant	286046	exon2			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.897C>T	8.37:g.10782208G>A			10819618	NM_173683	Q8TBA0	Silent	SNP	ENST00000416569.2	37	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	g	10.46	1.355552	0.24598	4.54E-4	0.0	ENSG00000171044	ENST00000382461	.	.	.	4.84	3.85	0.44370	.	.	.	.	.	T	0.62792	0.2457	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59685	-0.7408	4	.	.	.	0.0916	11.933	0.52857	0.0929:0.0:0.9071:0.0	.	.	.	.	V	76	.	.	A	-	2	0	XKR6	10819618	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.452000	0.60054	0.835000	0.34877	0.457000	0.33378	GCG		0.642	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683	
UBR5	51366	broad.mit.edu	37	8	103291365	103291365	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:103291365G>A	ENST00000520539.1	-	43	6679	c.6073C>T	c.(6073-6075)Cgt>Tgt	p.R2025C	UBR5_ENST00000220959.4_Missense_Mutation_p.R2025C|UBR5_ENST00000521922.1_Missense_Mutation_p.R2019C	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2025					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.R2025C(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GAGTCTGAACGTCGGAAAAAT	0.433																																					p.R2025C	Ovarian(131;96 1741 5634 7352 27489)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6073T	8						.						109.0	109.0	109.0					8																	103291365		2203	4300	6503	103360541	SO:0001583	missense	51366	exon43			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6073C>T	8.37:g.103291365G>A	ENSP00000429084:p.Arg2025Cys		103360541	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901649	0.92035	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.80033	-1.33;-1.33;-1.33	5.87	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.88581	0.6475	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	D	0.89114	0.3498	10	0.87932	D	0	.	16.165	0.81747	0.0:0.0:0.8661:0.1338	.	2019;2025	E7EMW7;O95071	.;UBR5_HUMAN	C	2025;2025;2019	ENSP00000429084:R2025C;ENSP00000220959:R2025C;ENSP00000427819:R2019C	ENSP00000220959:R2025C	R	-	1	0	UBR5	103360541	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.502000	0.81614	2.941000	0.99782	0.655000	0.94253	CGT		0.433	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
TMEM74	157753	broad.mit.edu	37	8	109796787	109796787	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:109796787C>T	ENST00000297459.3	-	2	719	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	181					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.A181T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			AACAAGATGGCGCTGATGAAA	0.507																																					p.A181T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G541A	8						.						108.0	100.0	103.0					8																	109796787		2203	4300	6503	109865963	SO:0001583	missense	157753	exon2			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.541G>A	8.37:g.109796787C>T	ENSP00000297459:p.Ala181Thr		109865963	NM_153015		Missense_Mutation	SNP	ENST00000297459.3	37	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539933	0.85917	.	.	ENSG00000164841	ENST00000297459	T	0.18502	2.21	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.22906	-1.0203	10	0.87932	D	0	-17.0454	19.416	0.94700	0.0:1.0:0.0:0.0	.	181	Q96NL1	TMM74_HUMAN	T	181	ENSP00000297459:A181T	ENSP00000297459:A181T	A	-	1	0	TMEM74	109865963	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.762000	0.68809	2.821000	0.97095	0.650000	0.86243	GCC		0.507	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015	
CSMD3	114788	broad.mit.edu	37	8	114290926	114290926	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:114290926C>A	ENST00000297405.5	-	3	653	c.409G>T	c.(409-411)Gga>Tga	p.G137*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G97*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G137*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G137*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	137	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G137*(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						AGATGGAATCCTGTTAACCTA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.G137X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G409T	8						.						98.0	90.0	93.0					8																	114290926		2203	4299	6502	114360102	SO:0001587	stop_gained	114788	exon3			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.409G>T	8.37:g.114290926C>A	ENSP00000297405:p.Gly137*		114360102	NM_198123	Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	38	7.168368	0.98111	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.5442	0.84410	0.0:1.0:0.0:0.0	.	.	.	.	X	97;137;137;137	.	ENSP00000297405:G137X	G	-	1	0	CSMD3	114360102	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.250000	0.78287	2.561000	0.86390	0.543000	0.68304	GGA		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
TRPS1	7227	broad.mit.edu	37	8	116427045	116427045	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:116427045G>A	ENST00000220888.5	-	6	3211	c.3052C>T	c.(3052-3054)Cag>Tag	p.Q1018*	TRPS1_ENST00000520276.1_Nonsense_Mutation_p.Q1022*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.Q772*|TRPS1_ENST00000395715.3_Nonsense_Mutation_p.Q1031*			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1018	Mediates interaction with RNF4. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q1018*(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGGACTGGCTGCTGAGCAGAA	0.443									Langer-Giedion syndrome																												p.Q1031X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3091T	8						.						125.0	120.0	122.0					8																	116427045		1907	4129	6036	116496221	SO:0001587	stop_gained	7227	exon7	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3052C>T	8.37:g.116427045G>A	ENSP00000220888:p.Gln1018*		116496221	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Nonsense_Mutation	SNP	ENST00000220888.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.270278|7.270278	0.98179|0.98179	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000518018|ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.79100|.	0.4389|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80903|.	-0.1174|.	4|.	.|0.72032	.|D	.|0.01	.|.	19.6491|19.6491	0.95794|0.95794	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	142|1031;1018;772;1022	.|.	.|ENSP00000220888:Q1018X	A|Q	-|-	2|1	0|0	TRPS1|TRPS1	116496221|116496221	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.288000|9.288000	0.96055|0.96055	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.443	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
DLC1	10395	broad.mit.edu	37	8	12943905	12943905	+	Missense_Mutation	SNP	C	C	T	rs367679746		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:12943905C>T	ENST00000276297.4	-	17	4769	c.4360G>A	c.(4360-4362)Gca>Aca	p.A1454T	DLC1_ENST00000520226.1_Missense_Mutation_p.A943T|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000512044.2_Missense_Mutation_p.A1051T|DLC1_ENST00000358919.2_Missense_Mutation_p.A1017T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1454	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				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.A1454T(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						ACCACAGGTGCGCGATCGTGA	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19593	0.0		0.0	False		,,,				2504	0.001				p.A1454T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4360A	8						.	C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	124.0	120.0	122.0		2827,3049,4360	5.0	1.0	8		122	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	943/1018,1017/1092,1454/1529	12943905	1,13005	2203	4300	6503	12988276	SO:0001583	missense	10395	exon17			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.4360G>A	8.37:g.12943905C>T	ENSP00000276297:p.Ala1454Thr		12988276	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160845	0.78226	0.0	1.16E-4	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.99	4.99	0.66335	Lipid-binding START (3);START-like domain (1);	0.113489	0.64402	D	0.000018	T	0.40645	0.1125	L	0.48642	1.525	0.80722	D	1	P;D;D	0.64830	0.918;0.973;0.994	B;P;P	0.50934	0.439;0.585;0.654	T	0.26052	-1.0114	10	0.62326	D	0.03	.	18.8379	0.92169	0.0:1.0:0.0:0.0	.	1454;1051;1017	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	1454;1017;393;1051;943	ENSP00000276297:A1454T;ENSP00000351797:A1017T;ENSP00000422595:A1051T;ENSP00000428028:A943T	ENSP00000276297:A1454T	A	-	1	0	DLC1	12988276	1.000000	0.71417	0.994000	0.49952	0.233000	0.25261	3.681000	0.54648	2.767000	0.95098	0.561000	0.74099	GCA		0.488	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	13357260	13357260	+	Silent	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:13357260T>C	ENST00000276297.4	-	2	730	c.321A>G	c.(319-321)ctA>ctG	p.L107L	DLC1_ENST00000316609.5_Silent_p.L107L|DLC1_ENST00000511869.1_Silent_p.L107L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	107					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.L107L(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						AAACATGCACTAGTGTTTCTG	0.423																																					p.L107L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A321G	8						.						220.0	221.0	221.0					8																	13357260		2203	4300	6503	13401631	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.321A>G	8.37:g.13357260T>C			13401631	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1																																																																																				0.423	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
TNFRSF11B	4982	broad.mit.edu	37	8	119945384	119945384	+	Silent	SNP	G	G	A	rs142201380	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:119945384G>A	ENST00000297350.4	-	2	564	c.186C>T	c.(184-186)tgC>tgT	p.C62C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	62					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)	p.C62C(1)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GGCAAGGGGCGCACACGGTCT	0.517													G|||	15	0.00299521	0.0113	0.0	5008	,	,		20846	0.0		0.0	False		,,,				2504	0.0				p.C62C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C186T	8						.	G		46,4360	48.2+/-83.0	1,44,2158	290.0	258.0	269.0		186	-6.6	0.0	8	dbSNP_134	269	0,8600		0,0,4300	no	coding-synonymous	TNFRSF11B	NM_002546.3		1,44,6458	AA,AG,GG		0.0,1.044,0.3537		62/402	119945384	46,12960	2203	4300	6503	120014565	SO:0001819	synonymous_variant	4982	exon2			U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.186C>T	8.37:g.119945384G>A			120014565	NM_002546	B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	ENST00000297350.4	37	CCDS6326.1																																																																																				0.517	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1		
TG	7038	broad.mit.edu	37	8	133995595	133995595	+	Splice_Site	SNP	T	T	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:133995595T>A	ENST00000220616.4	+	35	6240	c.6200T>A	c.(6199-6201)aTt>aAt	p.I2067N	TG_ENST00000542445.1_Splice_Site_p.I437N|TG_ENST00000377869.1_Splice_Site_p.I2010N|TG_ENST00000519543.1_Intron|TG_ENST00000522523.1_3'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2067					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.I2067N(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCTTTTCAGTTGCTCAAAAT	0.378																																					p.I2067N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6200A	8						.						273.0	255.0	261.0					8																	133995595		2203	4300	6503	134064777	SO:0001630	splice_region_variant	7038	exon35			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6200-1T>A	8.37:g.133995595T>A			134064777	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.24|10.24	1.294985|1.294985	0.23564|0.23564	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445	.|T;T;T	.|0.66995	.|-0.03;-0.03;-0.24	4.6|4.6	-0.385|-0.385	0.12470|0.12470	.|.	.|1.186100	.|0.06029	.|N	.|0.652677	T|T	0.46795|0.46795	0.1411|0.1411	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.08055	.|0.003;0.001	T|T	0.18713|0.18713	-1.0328|-1.0328	5|9	.|.	.|.	.|.	.|.	3.1262|3.1262	0.06408|0.06408	0.1802:0.3052:0.0:0.5146|0.1802:0.3052:0.0:0.5146	.|.	.|437;2067	.|F5GWW5;P01266	.|.;THYG_HUMAN	Q|N	522|2010;873;2067;437	.|ENSP00000367100:I2010N;ENSP00000220616:I2067N;ENSP00000441693:I437N	.|.	H|I	+|+	3|2	2|0	TG|TG	134064777|134064777	0.002000|0.002000	0.14202|0.14202	0.073000|0.073000	0.20177|0.20177	0.087000|0.087000	0.18053|0.18053	-0.781000|-0.781000	0.04648|0.04648	-0.057000|-0.057000	0.13199|0.13199	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.378	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Missense_Mutation
ST3GAL1	6482	broad.mit.edu	37	8	134472163	134472163	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:134472163G>A	ENST00000319914.5	-	9	1894	c.867C>T	c.(865-867)ttC>ttT	p.F289F	ST3GAL1_ENST00000522652.1_Silent_p.F289F|ST3GAL1_ENST00000399640.2_Silent_p.F289F|ST3GAL1_ENST00000521180.1_Silent_p.F289F			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	289					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)	p.F289F(1)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TGTCTGCCCCGAAGCCGTACA	0.577																																					p.F289F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C867T	8						.						115.0	118.0	117.0					8																	134472163		2203	4300	6503	134541345	SO:0001819	synonymous_variant	6482	exon10			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.867C>T	8.37:g.134472163G>A			134541345	NM_173344	O60677|Q9UN51	Silent	SNP	ENST00000319914.5	37	CCDS6373.1																																																																																				0.577	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033	
FAM135B	51059	broad.mit.edu	37	8	139380194	139380194	+	Silent	SNP	C	C	T	rs376994267		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:139380194C>T	ENST00000395297.1	-	2	203	c.33G>A	c.(31-33)tcG>tcA	p.S11S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	11								p.S11S(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)			GTAGCTCTACCGAAAACTCAA	0.368										HNSCC(54;0.14)																											p.S11S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G33A	8						.	C		0,3736		0,0,1868	152.0	145.0	147.0		33	-0.1	1.0	8		147	1,8203		0,1,4101	no	coding-synonymous	FAM135B	NM_015912.3		0,1,5969	TT,TC,CC		0.0122,0.0,0.0084		11/1407	139380194	1,11939	1868	4102	5970	139449376	SO:0001819	synonymous_variant	51059	exon2			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.33G>A	8.37:g.139380194C>T			139449376	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																				0.368	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
DENND3	22898	broad.mit.edu	37	8	142161746	142161746	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:142161746G>A	ENST00000262585.2	+	7	922	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	DENND3_ENST00000424248.1_Missense_Mutation_p.R215Q|DENND3_ENST00000519811.1_Missense_Mutation_p.R295Q	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	215	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R215Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGGAACAGCGGATCGTCTTC	0.547																																					p.R215Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G644A	8						.						145.0	117.0	127.0					8																	142161746		2203	4300	6503	142230928	SO:0001583	missense	22898	exon7			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.644G>A	8.37:g.142161746G>A	ENSP00000262585:p.Arg215Gln		142230928	NM_014957	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529763	0.45073	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.38	5.38	0.77491	DENN (3);	0.165227	0.49916	D	0.000132	T	0.29850	0.0746	L	0.42245	1.32	0.53005	D	0.999969	D;D	0.89917	1.0;0.998	D;D	0.70227	0.968;0.915	T	0.01136	-1.1440	10	0.49607	T	0.09	-27.7175	9.2328	0.37448	0.203:0.0:0.797:0.0	.	295;215	E9PF32;A2RUS2	.;DEND3_HUMAN	Q	215;215;295;217	ENSP00000262585:R215Q;ENSP00000410594:R215Q;ENSP00000428714:R295Q;ENSP00000429780:R217Q	ENSP00000262585:R215Q	R	+	2	0	DENND3	142230928	0.993000	0.37304	0.968000	0.41197	0.169000	0.22640	1.946000	0.40283	2.506000	0.84524	0.563000	0.77884	CGG		0.547	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957	
CYP11B1	1584	broad.mit.edu	37	8	143955812	143955812	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:143955812G>T	ENST00000292427.4	-	9	1521	c.1489C>A	c.(1489-1491)Ctc>Atc	p.L497I	CYP11B1_ENST00000377675.3_Missense_Mutation_p.L568I|CYP11B1_ENST00000517471.1_Missense_Mutation_p.L431I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	497					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.L497I(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)	CTGAAGGTGAGGAGGGGGAAC	0.562									Familial Hyperaldosteronism type I																												p.L431I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1291A	8						.						217.0	176.0	189.0					8																	143955812		2203	4300	6503	143952814	SO:0001583	missense	1584	exon8	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.1489C>A	8.37:g.143955812G>T	ENSP00000292427:p.Leu497Ile		143952814	NM_001026213	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	13.05	2.122584	0.37436	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000517471;ENST00000377675	T;T;D;T	0.86956	-0.88;-1.03;-2.19;-0.97	4.01	-0.203	0.13204	.	0.538701	0.15539	N	0.257066	D	0.87370	0.6160	M	0.62016	1.91	0.20926	N	0.999821	P;P;B;D;B	0.54047	0.593;0.483;0.2;0.964;0.2	B;B;B;P;B	0.57846	0.402;0.225;0.037;0.828;0.037	T	0.76503	-0.2935	10	0.27785	T	0.31	.	5.3401	0.15979	0.298:0.1531:0.5488:0.0	.	568;497;431;497;147	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	I	175;497;431;568	ENSP00000430144:L175I;ENSP00000292427:L497I;ENSP00000428043:L431I;ENSP00000366903:L568I	ENSP00000292427:L497I	L	-	1	0	CYP11B1	143952814	0.982000	0.34865	0.030000	0.17652	0.552000	0.35366	0.981000	0.29526	-0.022000	0.13986	0.655000	0.94253	CTC		0.562	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		
SCRIB	23513	broad.mit.edu	37	8	144886021	144886021	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:144886021C>T	ENST00000320476.3	-	23	3216	c.3210G>A	c.(3208-3210)acG>acA	p.T1070T	SCRIB_ENST00000377533.3_Silent_p.T989T|SCRIB_ENST00000356994.2_Silent_p.T1070T	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1070	Interaction with ARHGEF7.|PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.T1070T(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTTCTTGGTGCGTGGCATCCC	0.716																																					p.T1070T	Pancreas(51;966 1133 10533 14576 29674)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3210A	8						.						23.0	24.0	24.0					8																	144886021		2190	4292	6482	144958009	SO:0001819	synonymous_variant	23513	exon23			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3210G>A	8.37:g.144886021C>T			144958009	NM_015356	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	4.727	0.135262	0.09032	.	.	ENSG00000180900	ENST00000526832	.	.	.	4.52	-9.05	0.00730	.	.	.	.	.	T	0.42245	0.1194	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47724	-0.9095	4	.	.	.	.	4.7074	0.12856	0.0847:0.1957:0.1804:0.5392	.	.	.	.	T	66	.	.	A	-	1	0	SCRIB	144958009	0.000000	0.05858	0.403000	0.26384	0.494000	0.33585	-5.849000	0.00094	-2.568000	0.00469	-0.390000	0.06520	GCA		0.716	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356	
MYOM2	9172	broad.mit.edu	37	8	2017571	2017571	+	Missense_Mutation	SNP	C	C	T	rs375889597		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:2017571C>T	ENST00000262113.4	+	8	889	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	250					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R250W(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGCAGGGTTCCGGGGAGACGA	0.532																																					p.R250W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C748T	8						.	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	166.0	164.0	164.0		748	3.5	0.2	8		164	0,8600		0,0,4300	no	missense	MYOM2	NM_003970.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	250/1466	2017571	1,13005	2203	4300	6503	2004978	SO:0001583	missense	9172	exon8				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.748C>T	8.37:g.2017571C>T	ENSP00000262113:p.Arg250Trp		2004978	NM_003970	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722725	0.48728	2.27E-4	0.0	ENSG00000036448	ENST00000262113	T	0.52295	0.67	5.48	3.46	0.39613	.	0.577300	0.15998	N	0.234498	T	0.46658	0.1404	L	0.46157	1.445	0.80722	D	1	D	0.63046	0.992	P	0.46339	0.513	T	0.49331	-0.8951	10	0.51188	T	0.08	.	13.7247	0.62750	0.4269:0.5731:0.0:0.0	.	250	P54296	MYOM2_HUMAN	W	250	ENSP00000262113:R250W	ENSP00000262113:R250W	R	+	1	2	MYOM2	2004978	1.000000	0.71417	0.245000	0.24217	0.538000	0.34931	1.959000	0.40412	1.232000	0.43678	0.655000	0.94253	CGG		0.532	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
MTUS1	57509	broad.mit.edu	37	8	17579278	17579278	+	Intron	SNP	C	C	T	rs201491467	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:17579278C>T	ENST00000262102.6	-	4	2674				MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000381861.3_Missense_Mutation_p.V45M	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1						cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V45M(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)		TACGATCCCACGACCAGCAGT	0.408																																					p.V45M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	8						.						83.0	81.0	82.0					8																	17579278		1912	4110	6022	17623558	SO:0001627	intron_variant	57509	exon1			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2449+1902G>A	8.37:g.17579278C>T			17623558	NM_001001931	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022207	0.54683	.	.	ENSG00000129422	ENST00000381861	T	0.17854	2.25	5.56	2.63	0.31362	.	.	.	.	.	T	0.23688	0.0573	.	.	.	0.80722	D	1	P	0.51147	0.942	P	0.44673	0.457	T	0.24119	-1.0169	8	0.72032	D	0.01	.	16.9767	0.86315	0.0:0.5633:0.4367:0.0	.	45	Q9ULD2-6	.	M	45	ENSP00000371285:V45M	ENSP00000371285:V45M	V	-	1	0	MTUS1	17623558	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.930000	0.40124	0.817000	0.34445	0.655000	0.94253	GTG		0.408	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
PHYHIP	9796	broad.mit.edu	37	8	22079140	22079140	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:22079140G>A	ENST00000321613.3	-	6	1175	c.719C>T	c.(718-720)gCg>gTg	p.A240V	PHYHIP_ENST00000454243.2_Missense_Mutation_p.A240V	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	240								p.A240V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GCCTTTGGGCGCCAGCACCAG	0.617																																					p.A240V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C719T	8						.						22.0	31.0	28.0					8																	22079140		2068	4180	6248	22135085	SO:0001583	missense	9796	exon5			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.719C>T	8.37:g.22079140G>A	ENSP00000320017:p.Ala240Val		22135085	NM_014759	D3DSR1|Q8N4I9	Missense_Mutation	SNP	ENST00000321613.3	37	CCDS43723.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258573	0.95368	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000456132;ENST00000523252	T;T	0.36520	1.25;1.25	5.48	5.48	0.80851	.	0.056164	0.64402	D	0.000001	T	0.59018	0.2163	M	0.67953	2.075	0.52099	D	0.999949	D	0.76494	0.999	D	0.67103	0.949	T	0.60449	-0.7261	10	0.62326	D	0.03	-30.1201	18.1109	0.89536	0.0:0.0:1.0:0.0	.	240	Q92561	PHYIP_HUMAN	V	240;240;147;192	ENSP00000320017:A240V;ENSP00000415491:A240V	ENSP00000320017:A240V	A	-	2	0	PHYHIP	22135085	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.862000	0.99564	2.580000	0.87095	0.555000	0.69702	GCG		0.617	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759	
PIWIL2	55124	broad.mit.edu	37	8	22165564	22165564	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:22165564G>A	ENST00000454009.2	+	14	2173	c.1664G>A	c.(1663-1665)cGt>cAt	p.R555H	PIWIL2_ENST00000356766.6_Missense_Mutation_p.R555H|PIWIL2_ENST00000521356.1_Missense_Mutation_p.R555H	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	555					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.R555H(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)		TGGGGGCTCCGTCTGCAAAAG	0.443																																					p.R555H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1664A	8						.						61.0	54.0	56.0					8																	22165564		2203	4300	6503	22221509	SO:0001583	missense	55124	exon14			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.1664G>A	8.37:g.22165564G>A	ENSP00000406956:p.Arg555His		22221509	NM_018068	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	9.474	1.096355	0.20552	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.05855	3.38;3.38;3.38	5.99	0.885	0.19188	Ribonuclease H-like (1);	0.654084	0.17860	N	0.159574	T	0.03053	0.0090	N	0.14661	0.345	0.21762	N	0.999556	B;B	0.14012	0.009;0.004	B;B	0.08055	0.003;0.003	T	0.40739	-0.9547	10	0.44086	T	0.13	-1.5601	1.42	0.02310	0.2139:0.1187:0.4229:0.2444	.	555;555	E7ECA4;Q8TC59	.;PIWL2_HUMAN	H	555	ENSP00000349208:R555H;ENSP00000428267:R555H;ENSP00000406956:R555H	ENSP00000349208:R555H	R	+	2	0	PIWIL2	22221509	0.012000	0.17670	0.973000	0.42090	0.427000	0.31564	0.022000	0.13511	-0.114000	0.11936	-0.355000	0.07637	CGT		0.443	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
LOXL2	4017	broad.mit.edu	37	8	23191123	23191123	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:23191123G>A	ENST00000389131.3	-	5	1126	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	LOXL2_ENST00000518472.1_5'Flank|RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	253	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.R253W(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TGCTTCCTCCGTGAGGCAAAC	0.607																																					p.R253W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C757T	8						.						52.0	42.0	45.0					8																	23191123		2203	4300	6503	23247068	SO:0001583	missense	4017	exon5			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.757C>T	8.37:g.23191123G>A	ENSP00000373783:p.Arg253Trp		23247068	NM_002318	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	g	19.98	3.927535	0.73327	.	.	ENSG00000134013	ENST00000389131	T	0.36157	1.27	5.78	2.87	0.33458	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.167097	0.49916	D	0.000126	T	0.51160	0.1658	M	0.80183	2.485	0.46044	D	0.99883	D	0.60160	0.987	P	0.51453	0.67	T	0.59032	-0.7530	10	0.66056	D	0.02	.	14.3468	0.66672	0.0:0.0:0.4652:0.5348	.	253	Q9Y4K0	LOXL2_HUMAN	W	253	ENSP00000373783:R253W	ENSP00000373783:R253W	R	-	1	2	LOXL2	23247068	0.956000	0.32656	0.470000	0.27216	0.951000	0.60555	2.125000	0.42016	0.288000	0.22398	0.645000	0.84053	CGG		0.607	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1		
CDCA2	157313	broad.mit.edu	37	8	25364643	25364643	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:25364643G>A	ENST00000330560.3	+	15	2938	c.2461G>A	c.(2461-2463)Gtt>Att	p.V821I	CDCA2_ENST00000380665.3_Missense_Mutation_p.V806I|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	821					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V821I(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AAGTAGCAGTGTTGTGAGTTG	0.378																																					p.V821I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2461A	8						.						80.0	77.0	78.0					8																	25364643		2203	4300	6503	25420560	SO:0001583	missense	157313	exon15			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2461G>A	8.37:g.25364643G>A	ENSP00000328228:p.Val821Ile		25420560	NM_152562	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	3.860	-0.030015	0.07543	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.31769	1.49;1.48	5.71	-3.51	0.04696	.	1.684560	0.03157	N	0.168748	T	0.20210	0.0486	N	0.22421	0.69	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.005	T	0.31024	-0.9958	10	0.48119	T	0.1	0.2772	6.2553	0.20870	0.3546:0.3289:0.3166:0.0	.	806;821	E9PEI0;Q69YH5	.;CDCA2_HUMAN	I	821;806;220	ENSP00000328228:V821I;ENSP00000370040:V806I	ENSP00000328228:V821I	V	+	1	0	CDCA2	25420560	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.454000	0.06770	-0.382000	0.07870	-0.291000	0.09656	GTT		0.378	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562	
CHRNA2	1135	broad.mit.edu	37	8	27324847	27324847	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:27324847G>A	ENST00000520933.2	-	4	501	c.348C>T	c.(346-348)agC>agT	p.S116S	CHRNA2_ENST00000407991.1_Silent_p.S116S|CHRNA2_ENST00000240132.2_Silent_p.S101S			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	116					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)	p.S116S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	GTTTGTAGTCGCTCCACTCCT	0.552																																					p.S116S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C348T	8						.						95.0	94.0	95.0					8																	27324847		2203	4300	6503	27380764	SO:0001819	synonymous_variant	1135	exon5			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.348C>T	8.37:g.27324847G>A			27380764	NM_000742	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Silent	SNP	ENST00000520933.2	37	CCDS6059.1																																																																																				0.552	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4		
EXTL3	2137	broad.mit.edu	37	8	28573811	28573811	+	Missense_Mutation	SNP	G	G	A	rs374083446		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:28573811G>A	ENST00000220562.4	+	3	1137	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	79					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.V79M(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGTGAAGCACGTGCTGGATCT	0.597																																					p.V79M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G235A	8						.	G	MET/VAL	0,4406		0,0,2203	92.0	87.0	89.0		235	5.5	1.0	8		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	EXTL3	NM_001440.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	79/920	28573811	1,13005	2203	4300	6503	28629730	SO:0001583	missense	2137	exon3			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.235G>A	8.37:g.28573811G>A	ENSP00000220562:p.Val79Met		28629730	NM_001440	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036224	0.75617	0.0	1.16E-4	ENSG00000012232	ENST00000220562	D	0.95980	-3.87	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.95623	0.8577	L	0.43152	1.355	0.80722	D	1	D	0.71674	0.998	P	0.54965	0.765	D	0.94645	0.7834	9	.	.	.	-22.8024	19.4523	0.94872	0.0:0.0:1.0:0.0	.	79	O43909	EXTL3_HUMAN	M	79	ENSP00000220562:V79M	.	V	+	1	0	EXTL3	28629730	1.000000	0.71417	0.994000	0.49952	0.929000	0.56500	9.869000	0.99810	2.600000	0.87896	0.491000	0.48974	GTG		0.597	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440	
EXTL3	2137	broad.mit.edu	37	8	28574617	28574617	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:28574617C>T	ENST00000220562.4	+	3	1943	c.1041C>T	c.(1039-1041)ggC>ggT	p.G347G	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	347					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.G347G(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCTTCCAGGGCGAGAAGATTG	0.567																																					p.G347G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1041T	8						.						81.0	73.0	76.0					8																	28574617		2203	4300	6503	28630536	SO:0001819	synonymous_variant	2137	exon3			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1041C>T	8.37:g.28574617C>T			28630536	NM_001440	D3DST8|O00225|Q53XT3	Silent	SNP	ENST00000220562.4	37	CCDS6070.1																																																																																				0.567	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440	
TEX15	56154	broad.mit.edu	37	8	30700458	30700458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:30700458G>A	ENST00000256246.2	-	1	6150	c.6076C>T	c.(6076-6078)Caa>Taa	p.Q2026*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2026					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.Q2026*(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)		TTATTATCTTGTAGCATCTGA	0.323																																					p.Q2026X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6076T	8						.						19.0	21.0	20.0					8																	30700458		2176	4275	6451	30820000	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.6076C>T	8.37:g.30700458G>A	ENSP00000256246:p.Gln2026*		30820000	NM_031271		Nonsense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	46	12.151148	0.99640	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.412	0.90555	0.0:0.0:1.0:0.0	.	.	.	.	X	2026	.	ENSP00000256246:Q2026X	Q	-	1	0	TEX15	30820000	1.000000	0.71417	0.971000	0.41717	0.846000	0.48090	4.494000	0.60347	2.653000	0.90120	0.585000	0.79938	CAA		0.323	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
FGFR1	2260	broad.mit.edu	37	8	38287255	38287255	+	Silent	SNP	G	G	A	rs142638017	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:38287255G>A	ENST00000447712.2	-	3	1244	c.303C>T	c.(301-303)tgC>tgT	p.C101C	FGFR1_ENST00000335922.5_Silent_p.C93C|FGFR1_ENST00000397113.2_Silent_p.C101C|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000532791.1_Silent_p.C101C|FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000397108.4_Silent_p.C101C|FGFR1_ENST00000425967.3_Silent_p.C134C|FGFR1_ENST00000341462.5_Silent_p.C101C|FGFR1_ENST00000397091.5_Silent_p.C101C|FGFR1_ENST00000326324.6_Intron	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	101	Ig-like C2-type 1.		C -> F (in HH2). {ECO:0000269|PubMed:17154279}.		angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.C101C(2)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGCTGGTTACGCAAGCATAGA	0.652		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						G|||	2	0.000399361	0.0	0.0014	5008	,	,		15456	0.001		0.0	False		,,,				2504	0.0				p.C101C	Melanoma(146;1153 1840 21453 21841 43625)		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C303T	8						.	G	,,,,,,,,	2,4396		0,2,2197	71.0	59.0	63.0		303,279,303,,402,303,,,303	-2.8	0.9	8	dbSNP_134	63	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous,intron,intron,coding-synonymous	FGFR1	NM_001174063.1,NM_001174064.1,NM_001174065.1,NM_001174066.1,NM_001174067.1,NM_015850.3,NM_023105.2,NM_023106.2,NM_023110.2	,,,,,,,,	0,2,6496	AA,AG,GG		0.0,0.0455,0.0154	,,,,,,,,	101/821,93/813,101/821,,134/854,101/821,,,101/823	38287255	2,12994	2199	4299	6498	38406412	SO:0001819	synonymous_variant	2260	exon3			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.303C>T	8.37:g.38287255G>A			38406412	NM_001174065	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	ENST00000447712.2	37	CCDS6107.2																																																																																				0.652	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
FGFR1	2260	broad.mit.edu	37	8	38287381	38287381	+	Silent	SNP	G	G	A	rs367880371		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:38287381G>A	ENST00000447712.2	-	3	1118	c.177C>T	c.(175-177)gaC>gaT	p.D59D	FGFR1_ENST00000335922.5_Silent_p.D51D|FGFR1_ENST00000397113.2_Silent_p.D59D|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000532791.1_Silent_p.D59D|FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000397108.4_Silent_p.D59D|FGFR1_ENST00000425967.3_Silent_p.D92D|FGFR1_ENST00000341462.5_Silent_p.D59D|FGFR1_ENST00000397091.5_Silent_p.D59D|FGFR1_ENST00000326324.6_Intron	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	59	Ig-like C2-type 1.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.D59D(2)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TCTGCACATCGTCCCGCAGCC	0.682		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														p.D59D	Melanoma(146;1153 1840 21453 21841 43625)		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C177T	8						.	G	,,,,,,,,	0,4406		0,0,2203	34.0	31.0	32.0		177,153,177,,276,177,,,177	1.3	1.0	8		32	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous,intron,intron,coding-synonymous	FGFR1	NM_001174063.1,NM_001174064.1,NM_001174065.1,NM_001174066.1,NM_001174067.1,NM_015850.3,NM_023105.2,NM_023106.2,NM_023110.2	,,,,,,,,	0,3,6499	AA,AG,GG		0.0349,0.0,0.0231	,,,,,,,,	59/821,51/813,59/821,,92/854,59/821,,,59/823	38287381	3,13001	2203	4299	6502	38406538	SO:0001819	synonymous_variant	2260	exon3			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.177C>T	8.37:g.38287381G>A			38406538	NM_001174065	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	ENST00000447712.2	37	CCDS6107.2																																																																																				0.682	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
ADAM18	8749	broad.mit.edu	37	8	39494820	39494820	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:39494820delA	ENST00000265707.5	+	8	671	c.626delA	c.(625-627)caafs	p.Q209fs	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Intron	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	209	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I211fs*17(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GCTGTAACACAAAAAATTGTC	0.274																																					p.Q209fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.626delA	8						.						75.0	81.0	79.0					8																	39494820		2203	4294	6497	39613977	SO:0001589	frameshift_variant	8749	exon8			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.626delA	8.37:g.39494820delA	ENSP00000265707:p.Gln209fs		39613977	NM_014237	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Frame_Shift_Del	DEL	ENST00000265707.5	37	CCDS6113.1																																																																																				0.274	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
KAT6A	7994	broad.mit.edu	37	8	41834819	41834819	+	Missense_Mutation	SNP	C	C	T	rs372273756		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:41834819C>T	ENST00000396930.3	-	8	1613	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	KAT6A_ENST00000406337.1_Missense_Mutation_p.R357Q|KAT6A_ENST00000485568.1_Missense_Mutation_p.R357Q|KAT6A_ENST00000265713.2_Missense_Mutation_p.R357Q	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	357	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R357Q(1)									AGGGCCAGTTCGAACTTTGCT	0.383																																					p.R357Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1070A	8						.	C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	91.0	84.0	86.0		1070,1070,1070	4.5	1.0	8		86	1,8599		0,1,4299	no	missense,missense,missense	KAT6A	NM_006766.3,NM_001099413.1,NM_001099412.1	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	357/2005,357/2005,357/2005	41834819	1,13005	2203	4300	6503	41953976	SO:0001583	missense	7994	exon8			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1070G>A	8.37:g.41834819C>T	ENSP00000380136:p.Arg357Gln		41953976	NM_001099413	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612978	0.46631	0.0	1.16E-4	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84223	0.23;0.23;0.23;-1.82	5.37	4.49	0.54785	.	0.337782	0.24506	N	0.037937	T	0.77239	0.4101	L	0.38175	1.15	0.28857	N	0.895756	B;B	0.11235	0.003;0.004	B;B	0.04013	0.001;0.001	T	0.65796	-0.6081	10	0.26408	T	0.33	-1.6842	11.0597	0.47940	0.0:0.851:0.0:0.149	.	357;357	A5PLL3;Q92794	.;KAT6A_HUMAN	Q	357	ENSP00000265713:R357Q;ENSP00000385888:R357Q;ENSP00000380136:R357Q;ENSP00000430606:R357Q	ENSP00000265713:R357Q	R	-	2	0	KAT6A	41953976	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.552000	0.53705	1.258000	0.44101	0.650000	0.86243	CGA		0.383	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
IKBKB	3551	broad.mit.edu	37	8	42166485	42166485	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:42166485G>A	ENST00000520810.1	+	8	820	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.A210T|IKBKB_ENST00000519735.1_Missense_Mutation_p.A212T|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.A153T	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|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 phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.A212T(1)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CGGCACCCTGGCCTTTGAGTG	0.647																																					p.A212T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G634A	8						.						148.0	132.0	137.0					8																	42166485		2203	4300	6503	42285642	SO:0001583	missense	3551	exon8			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.634G>A	8.37:g.42166485G>A	ENSP00000430684:p.Ala212Thr		42285642	NM_001190722	B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918562	0.92249	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000519735;ENST00000520835	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055732	0.64402	D	0.000001	T	0.45975	0.1369	N	0.25957	0.775	0.80722	D	1	D;P;B;P;P	0.53619	0.961;0.753;0.425;0.792;0.932	P;B;B;P;P	0.53224	0.721;0.406;0.42;0.643;0.514	T	0.49881	-0.8892	10	0.66056	D	0.02	.	18.4904	0.90844	0.0:0.0:1.0:0.0	.	153;210;163;212;212	B4E0U4;O14920-2;Q59GL9;O14920;Q32ND9	.;.;.;IKKB_HUMAN;.	T	212;153;212;210	ENSP00000430684:A212T;ENSP00000404920:A153T;ENSP00000430483:A212T;ENSP00000430868:A210T	ENSP00000404920:A153T	A	+	1	0	IKBKB	42285642	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.636000	0.74299	2.437000	0.82529	0.563000	0.77884	GCC		0.647	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		
DKK4	27121	broad.mit.edu	37	8	42231685	42231685	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:42231685C>T	ENST00000220812.2	-	4	794	c.608G>A	c.(607-609)cGa>cAa	p.R203Q		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	203	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.R203Q(2)		NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAATTGGCTTCGACACAGTAG	0.443																																					p.R203Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G608A	8						.						92.0	93.0	92.0					8																	42231685		2203	4300	6503	42350842	SO:0001583	missense	27121	exon4			AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.608G>A	8.37:g.42231685C>T	ENSP00000220812:p.Arg203Gln		42350842	NM_014420	Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	ENST00000220812.2	37	CCDS6130.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217661	0.39201	.	.	ENSG00000104371	ENST00000220812	D	0.84146	-1.81	6.03	4.25	0.50352	Prokineticin domain (1);	0.272637	0.26535	N	0.023835	T	0.73776	0.3630	L	0.31664	0.95	0.34135	D	0.665696	B	0.33000	0.393	B	0.27608	0.081	T	0.74006	-0.3803	10	0.21540	T	0.41	-1.0608	10.8868	0.46972	0.0:0.8479:0.0:0.1521	.	203	Q9UBT3	DKK4_HUMAN	Q	203	ENSP00000220812:R203Q	ENSP00000220812:R203Q	R	-	2	0	DKK4	42350842	0.690000	0.27699	0.287000	0.24848	0.039000	0.13416	1.250000	0.32850	0.883000	0.36040	0.655000	0.94253	CGA		0.443	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1		
SLC20A2	6575	broad.mit.edu	37	8	42294520	42294520	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:42294520C>T	ENST00000342228.3	-	8	1879	c.1510G>A	c.(1510-1512)Ggc>Agc	p.G504S	SLC20A2_ENST00000520262.1_Missense_Mutation_p.G504S|SLC20A2_ENST00000520179.1_Missense_Mutation_p.G504S	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	504					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)	p.G504S(1)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACGTCATTGCCGCCGTGAGCA	0.602																																					p.G504S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1510A	8						.						68.0	47.0	54.0					8																	42294520		2203	4300	6503	42413677	SO:0001583	missense	6575	exon8				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1510G>A	8.37:g.42294520C>T	ENSP00000340465:p.Gly504Ser		42413677	NM_006749		Missense_Mutation	SNP	ENST00000342228.3	37	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236646	0.95240	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.89343	-2.5;-2.5;-2.5	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.80391	0.4614	N	0.21583	0.68	0.80722	D	1	P	0.49447	0.924	B	0.37601	0.254	T	0.79412	-0.1814	10	0.17369	T	0.5	-28.992	17.1672	0.86819	0.0:1.0:0.0:0.0	.	504	Q08357	S20A2_HUMAN	S	504	ENSP00000340465:G504S;ENSP00000429754:G504S;ENSP00000429712:G504S	ENSP00000340465:G504S	G	-	1	0	SLC20A2	42413677	1.000000	0.71417	0.988000	0.46212	0.806000	0.45545	7.792000	0.85828	2.657000	0.90304	0.585000	0.79938	GGC		0.602	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1		
PRKDC	5591	broad.mit.edu	37	8	48713536	48713536	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:48713536C>T	ENST00000314191.2	-	72	9987	c.9931G>A	c.(9931-9933)Gtg>Atg	p.V3311M	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.V3311M	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3312	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.V3312M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TAGCTTGACACGTTGTTCTCA	0.353								Non-homologous end-joining																													p.T3311T	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9933A	8						.						67.0	61.0	63.0					8																	48713536		1855	4106	5961	48876089	SO:0001583	missense	5591	exon71				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9931G>A	8.37:g.48713536C>T	ENSP00000313420:p.Val3311Met		48876089	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	C	0.086	-1.174604	0.01646	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.71934	-0.61;-0.61	2.21	-0.342	0.12635	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.930749	0.09077	N	0.851897	T	0.43077	0.1231	N	0.08118	0	0.09310	N	1	B;B	0.26876	0.162;0.162	B;B	0.21546	0.035;0.021	T	0.22871	-1.0204	10	0.31617	T	0.26	.	2.4536	0.04524	0.0:0.1917:0.2945:0.5139	.	3311;3312	E7EUY0;P78527	.;PRKDC_HUMAN	M	3311	ENSP00000313420:V3311M;ENSP00000345182:V3311M	ENSP00000313420:V3311M	V	-	1	0	PRKDC	48876089	0.001000	0.12720	0.026000	0.17262	0.171000	0.22731	0.083000	0.14871	-0.075000	0.12798	-1.092000	0.02172	GTG		0.353	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
PRKDC	5591	broad.mit.edu	37	8	48801169	48801169	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:48801169C>T	ENST00000314191.2	-	35	4376	c.4320G>A	c.(4318-4320)gcG>gcA	p.A1440A	PRKDC_ENST00000523565.1_5'UTR|AC103686.1_ENST00000390136.2_RNA|PRKDC_ENST00000338368.3_Silent_p.A1440A	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1441					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.A1441A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTCCACTTGCGCGTCAGGGC	0.468								Non-homologous end-joining																													p.R1441H	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4322A	8						.						30.0	32.0	31.0					8																	48801169		2000	4183	6183	48963722	SO:0001819	synonymous_variant	5591	exon34				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4320G>A	8.37:g.48801169C>T			48963722	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37																																																																																					0.468	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
ST18	9705	broad.mit.edu	37	8	53028962	53028962	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:53028962C>T	ENST00000276480.7	-	25	3559	c.2876G>A	c.(2875-2877)aGc>aAc	p.S959N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	959					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.S959N(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTTTAAGTTGCTCTCCATAGA	0.423																																					p.S959N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2876A	8						.						184.0	138.0	154.0					8																	53028962		2203	4300	6503	53191515	SO:0001583	missense	9705	exon25			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2876G>A	8.37:g.53028962C>T	ENSP00000276480:p.Ser959Asn		53191515	NM_014682	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685735	0.47991	.	.	ENSG00000147488	ENST00000276480	T	0.45276	0.9	5.63	4.74	0.60224	.	0.190654	0.56097	D	0.000023	T	0.28400	0.0702	N	0.24115	0.695	0.27424	N	0.954203	P	0.36616	0.561	B	0.29942	0.109	T	0.08006	-1.0743	10	0.33940	T	0.23	-17.5125	15.8047	0.78483	0.0:0.6201:0.3799:0.0	.	959	O60284	ST18_HUMAN	N	959	ENSP00000276480:S959N	ENSP00000276480:S959N	S	-	2	0	ST18	53191515	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.653000	0.46691	1.348000	0.45733	0.655000	0.94253	AGC		0.423	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
NSMAF	8439	broad.mit.edu	37	8	59522172	59522172	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:59522172G>A	ENST00000038176.3	-	10	890	c.678C>T	c.(676-678)aaC>aaT	p.N226N	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Silent_p.N257N	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	226	GRAM.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.N226N(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CCGGGTAGCCGTTGAGGGGCT	0.532																																					p.N226N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C678T	8						.						92.0	85.0	87.0					8																	59522172		2203	4300	6503	59684726	SO:0001819	synonymous_variant	8439	exon10			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.678C>T	8.37:g.59522172G>A			59684726	NM_003580	B4DFB0|E9PCH0|Q8IW26	Silent	SNP	ENST00000038176.3	37	CCDS6173.1																																																																																				0.532	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580	
CYP7B1	9420	broad.mit.edu	37	8	65528436	65528436	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:65528436T>C	ENST00000310193.3	-	3	835	c.662A>G	c.(661-663)gAc>gGc	p.D221G	CYP7B1_ENST00000523954.1_5'Flank	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	221					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.D221G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGCAAACTTGTCATCAAATTT	0.274																																					p.D221G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A662G	8						.						68.0	69.0	69.0					8																	65528436		2202	4300	6502	65690990	SO:0001583	missense	9420	exon3			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.662A>G	8.37:g.65528436T>C	ENSP00000310721:p.Asp221Gly		65690990	NM_004820	B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	T	2.403	-0.337215	0.05278	.	.	ENSG00000172817	ENST00000310193	T	0.70749	-0.51	5.62	-3.28	0.05033	.	0.624237	0.18438	N	0.141231	T	0.51415	0.1673	L	0.38838	1.175	0.28686	N	0.904845	B	0.09022	0.002	B	0.15052	0.012	T	0.37244	-0.9714	9	.	.	.	-1.1329	7.6935	0.28581	0.0:0.2936:0.3771:0.3293	.	221	O75881	CP7B1_HUMAN	G	221	ENSP00000310721:D221G	.	D	-	2	0	CYP7B1	65690990	0.915000	0.31059	0.485000	0.27403	0.416000	0.31233	0.150000	0.16263	-0.151000	0.11176	-0.256000	0.11100	GAC		0.274	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1		
MYBL1	4603	broad.mit.edu	37	8	67507952	67507952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:67507952G>A	ENST00000522677.3	-	6	963	c.553C>T	c.(553-555)Cga>Tga	p.R185*	MYBL1_ENST00000524176.2_Nonsense_Mutation_p.R185*|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	185	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R185*(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ACTTTTCTTCGCATAGTAGAA	0.338																																					p.R185X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C553T	8						.						136.0	121.0	125.0					8																	67507952		1822	4069	5891	67670506	SO:0001587	stop_gained	4603	exon6			X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.553C>T	8.37:g.67507952G>A	ENSP00000429633:p.Arg185*		67670506	NM_001080416	E7EW29|Q495F9	Nonsense_Mutation	SNP	ENST00000522677.3	37	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	G	39	7.615818	0.98390	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	.	.	.	5.51	3.65	0.41850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2225	14.0399	0.64669	0.0:0.0:0.4854:0.5146	.	.	.	.	X	185	.	ENSP00000429633:R185X	R	-	1	2	MYBL1	67670506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.254000	0.32897	0.747000	0.32809	0.655000	0.94253	CGA		0.338	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274	
SULF1	23213	broad.mit.edu	37	8	70540067	70540067	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:70540067A>G	ENST00000260128.4	+	17	2725	c.2008A>G	c.(2008-2010)Agg>Ggg	p.R670G	SULF1_ENST00000419716.3_Missense_Mutation_p.R670G|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.R670G|SULF1_ENST00000458141.2_Missense_Mutation_p.R670G	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	670					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.R670G(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCTGAAGAGAAGGAAGCCTGA	0.403																																					p.R670G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2008G	8						.						130.0	150.0	143.0					8																	70540067		2203	4300	6503	70702621	SO:0001583	missense	23213	exon17			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2008A>G	8.37:g.70540067A>G	ENSP00000260128:p.Arg670Gly		70702621	NM_001128205	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129429	0.77549	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98947	-5.26;-5.26;-5.26;-5.26	4.92	4.92	0.64577	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.088138	0.85682	D	0.000000	D	0.98698	0.9563	M	0.72118	2.19	0.51012	D	0.999903	D	0.56746	0.977	P	0.61722	0.893	D	0.99167	1.0863	10	0.52906	T	0.07	.	14.2115	0.65767	1.0:0.0:0.0:0.0	.	670	Q8IWU6	SULF1_HUMAN	G	670	ENSP00000403040:R670G;ENSP00000260128:R670G;ENSP00000385704:R670G;ENSP00000390315:R670G	ENSP00000260128:R670G	R	+	1	2	SULF1	70702621	1.000000	0.71417	0.951000	0.38953	0.809000	0.45718	4.229000	0.58625	1.837000	0.53436	0.379000	0.24179	AGG		0.403	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170	
NCOA2	10499	broad.mit.edu	37	8	71074996	71074996	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:71074996G>A	ENST00000452400.2	-	9	1107	c.926C>T	c.(925-927)gCg>gTg	p.A309V		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	309					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.A309V(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)			TTCATGCTGCGCATGGAACTT	0.448			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																p.A309V			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C926T	8						.						142.0	139.0	140.0					8																	71074996		1966	4161	6127	71237550	SO:0001583	missense	10499	exon9			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.926C>T	8.37:g.71074996G>A	ENSP00000399968:p.Ala309Val		71237550	NM_006540	Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502251	0.44455	.	.	ENSG00000140396	ENST00000452400	T	0.16457	2.34	6.16	6.16	0.99307	.	0.267246	0.39687	N	0.001293	T	0.14485	0.0350	N	0.22421	0.69	0.80722	D	1	B	0.23185	0.081	B	0.18561	0.022	T	0.14755	-1.0461	10	0.17832	T	0.49	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	309	Q15596	NCOA2_HUMAN	V	309	ENSP00000399968:A309V	ENSP00000399968:A309V	A	-	2	0	NCOA2	71237550	0.778000	0.28640	0.163000	0.22734	0.981000	0.71138	4.503000	0.60407	2.937000	0.99478	0.650000	0.86243	GCG		0.448	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		
KCNB2	9312	broad.mit.edu	37	8	73848316	73848316	+	Silent	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:73848316A>G	ENST00000523207.1	+	3	1314	c.726A>G	c.(724-726)gcA>gcG	p.A242A		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	242					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.A242A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGTGTATTGCATGGTTTACCA	0.463																																					p.A242A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A726G	8						.						202.0	173.0	182.0					8																	73848316		2203	4300	6503	74010870	SO:0001819	synonymous_variant	9312	exon3			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.726A>G	8.37:g.73848316A>G			74010870	NM_004770	Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	CCDS6209.1																																																																																				0.463	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
STAU2	27067	broad.mit.edu	37	8	74528000	74528000	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:74528000C>T	ENST00000524300.1	-	8	938	c.588G>A	c.(586-588)aaG>aaA	p.K196K	STAU2_ENST00000523558.1_Silent_p.K24K|STAU2_ENST00000517542.1_Silent_p.K158K|STAU2_ENST00000521727.1_Silent_p.K176K|STAU2_ENST00000522509.1_Silent_p.K164K|STAU2_ENST00000519961.1_Silent_p.K196K|STAU2_ENST00000521210.1_Silent_p.K92K|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000522695.1_Silent_p.K164K|STAU2_ENST00000355780.5_Silent_p.K164K	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	196					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.K164K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CATCCACATCCTTTCCTGATT	0.343																																					p.K24K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G72A	8						.						153.0	136.0	142.0					8																	74528000		2203	4300	6503	74690554	SO:0001819	synonymous_variant	27067	exon3			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000524300.1:c.588G>A	8.37:g.74528000C>T			74690554	NM_001164383	B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Silent	SNP	ENST00000524300.1	37	CCDS55247.1																																																																																				0.343	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379000.2	NM_001164380	
ZFHX4	79776	broad.mit.edu	37	8	77761900	77761900	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:77761900G>A	ENST00000521891.2	+	8	4246	c.3798G>A	c.(3796-3798)acG>acA	p.T1266T	ZFHX4_ENST00000455469.2_Silent_p.T1221T|ZFHX4_ENST00000518282.1_Silent_p.T1240T|ZFHX4_ENST00000050961.6_Silent_p.T1221T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1221					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.T1266T(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)			TGCATCTGACGCATTTGCACA	0.478										HNSCC(33;0.089)																											p.T1266T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3798A	8						.						89.0	84.0	86.0					8																	77761900		2055	4213	6268	77924455	SO:0001819	synonymous_variant	79776	exon8				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.3798G>A	8.37:g.77761900G>A			77924455	NM_024721	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
HEY1	23462	broad.mit.edu	37	8	80677993	80677993	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:80677993C>T	ENST00000354724.3	-	5	544	c.345G>A	c.(343-345)gcG>gcA	p.A115A	HEY1_ENST00000435063.2_5'UTR|RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000337919.5_Silent_p.A119A|HEY1_ENST00000523976.1_Silent_p.A25A	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	115	Transcriptional repression and interaction with NCOR1 and SIN3A. {ECO:0000250}.				angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A115A(2)|p.A119A(1)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			CAAGGGCGTGCGCGTCAAAGT	0.488			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A115A			Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.G345A	8						.						42.0	44.0	43.0					8																	80677993		2203	4300	6503	80840548	SO:0001819	synonymous_variant	23462	exon5			AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.345G>A	8.37:g.80677993C>T		1200	80840548	NM_012258	B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Silent	SNP	ENST00000354724.3	37	CCDS6225.1																																																																																				0.488	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258	
TSPYL5	85453	broad.mit.edu	37	8	98289373	98289373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:98289373G>A	ENST00000322128.3	-	1	803	c.700C>T	c.(700-702)Cga>Tga	p.R234*		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	234					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)		p.R234*(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGCTGCAGTCGCAACTGCCCA	0.567																																					p.R234X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C700T	8						.						64.0	64.0	64.0					8																	98289373		2203	4300	6503	98358549	SO:0001587	stop_gained	85453	exon1			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.700C>T	8.37:g.98289373G>A	ENSP00000322802:p.Arg234*		98358549	NM_033512	B3KRF0|Q9C0B3	Nonsense_Mutation	SNP	ENST00000322128.3	37	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	G	37	6.597208	0.97692	.	.	ENSG00000180543	ENST00000322128	.	.	.	4.4	4.4	0.53042	.	0.000000	0.31381	N	0.007750	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9987	12.7896	0.57526	0.0:0.0:1.0:0.0	.	.	.	.	X	234	.	ENSP00000322802:R234X	R	-	1	2	TSPYL5	98358549	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.896000	0.48656	2.739000	0.93911	0.563000	0.77884	CGA		0.567	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512	
MATN2	4147	broad.mit.edu	37	8	98943420	98943420	+	Missense_Mutation	SNP	C	C	T	rs377009254		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:98943420C>T	ENST00000520016.1	+	2	506	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.R128W|MATN2_ENST00000254898.5_Missense_Mutation_p.R128W|MATN2_ENST00000524308.1_Missense_Mutation_p.R128W			O00339	MATN2_HUMAN	matrilin 2	128	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R128W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CAAGAGGATGCGGCATCTGTC	0.587																																					p.R128W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C382T	8						.	C	TRP/ARG,TRP/ARG	1,4261		0,1,2130	55.0	60.0	59.0		382,382	0.8	1.0	8		59	0,8508		0,0,4254	no	missense,missense	MATN2	NM_002380.3,NM_030583.2	101,101	0,1,6384	TT,TC,CC		0.0,0.0235,0.0078	probably-damaging,probably-damaging	128/957,128/938	98943420	1,12769	2131	4254	6385	99012596	SO:0001583	missense	4147	exon3			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.382C>T	8.37:g.98943420C>T	ENSP00000430487:p.Arg128Trp		99012596	NM_030583	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827179	0.71143	2.35E-4	0.0	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.97	0.813	0.18749	von Willebrand factor, type A (3);	0.081678	0.51477	D	0.000095	D	0.83594	0.5288	L	0.59436	1.845	0.31865	N	0.620505	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;P	0.64877	0.93;0.921;0.91;0.873	D	0.85514	0.1199	10	0.59425	D	0.04	-22.3411	15.5484	0.76126	0.4575:0.5425:0.0:0.0	.	128;128;128;128	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	W	128	ENSP00000429977:R128W;ENSP00000254898:R128W;ENSP00000430221:R128W;ENSP00000430487:R128W	ENSP00000254898:R128W	R	+	1	2	MATN2	99012596	0.996000	0.38824	0.998000	0.56505	0.997000	0.91878	0.484000	0.22308	-0.083000	0.12618	0.655000	0.94253	CGG		0.587	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1		
MATN2	4147	broad.mit.edu	37	8	99019771	99019771	+	Silent	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:99019771C>A	ENST00000520016.1	+	9	1639	c.1515C>A	c.(1513-1515)tcC>tcA	p.S505S	MATN2_ENST00000254898.5_Silent_p.S505S|MATN2_ENST00000521689.1_Silent_p.S505S|MATN2_ENST00000524308.1_Silent_p.S464S|MATN2_ENST00000522025.2_Silent_p.S221S			O00339	MATN2_HUMAN	matrilin 2	505	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.S505S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGGACAGATCCTTTGCCTGTC	0.537																																					p.S505S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1515A	8						.						149.0	147.0	148.0					8																	99019771		2123	4235	6358	99088947	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.1515C>A	8.37:g.99019771C>A			99088947	NM_030583	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	2.203	-0.382450	0.04966	.	.	ENSG00000132561	ENST00000518154	.	.	.	5.65	1.9	0.25705	.	.	.	.	.	T	0.55924	0.1951	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47433	-0.9118	4	.	.	.	-29.3922	8.0953	0.30824	0.0:0.6744:0.0:0.3256	.	.	.	.	I	288	.	.	L	+	1	0	MATN2	99088947	0.992000	0.36948	0.997000	0.53966	0.134000	0.20937	0.179000	0.16840	0.351000	0.24027	-0.140000	0.14226	CTT		0.537	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1		
MATN2	4147	broad.mit.edu	37	8	99030335	99030335	+	Missense_Mutation	SNP	C	C	T	rs367737640		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:99030335C>T	ENST00000520016.1	+	11	1934	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	MATN2_ENST00000254898.5_Missense_Mutation_p.R604C|MATN2_ENST00000521689.1_Missense_Mutation_p.R604C|MATN2_ENST00000524308.1_Missense_Mutation_p.R563C|MATN2_ENST00000522025.2_Missense_Mutation_p.R320C			O00339	MATN2_HUMAN	matrilin 2	604	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R604C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GGATGGGAAACGCTGCCGAAG	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		21932	0.0		0.0	False		,,,				2504	0.001				p.R604C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1810T	8						.	C	CYS/ARG,CYS/ARG	0,4146		0,0,2073	159.0	166.0	164.0		1810,1810	4.3	0.3	8		164	1,8419		0,1,4209	no	missense,missense	MATN2	NM_002380.3,NM_030583.2	180,180	0,1,6282	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging	604/957,604/938	99030335	1,12565	2073	4210	6283	99099511	SO:0001583	missense	4147	exon12			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.1810C>T	8.37:g.99030335C>T	ENSP00000430487:p.Arg604Cys		99099511	NM_030583	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.33|14.33	2.502927|2.502927	0.44558|0.44558	0.0|0.0	1.19E-4|1.19E-4	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016|ENST00000518154;ENST00000517321	D;D;D;D;D|.	0.96427|.	-4.01;-4.01;-4.01;-4.01;-4.01|.	5.2|5.2	4.28|4.28	0.50868|0.50868	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);|.	0.643455|.	0.14765|.	N|.	0.299748|.	T|T	0.65481|0.65481	0.2695|0.2695	M|M	0.64997|0.64997	1.995|1.995	0.36236|0.36236	D|D	0.852989|0.852989	B;D;D;D|.	0.54207|.	0.025;0.958;0.965;0.958|.	B;P;B;P|.	0.47941|.	0.007;0.562;0.345;0.562|.	T|T	0.70073|0.70073	-0.4972|-0.4972	10|5	0.62326|.	D|.	0.03|.	-13.8728|-13.8728	12.5972|12.5972	0.56476|0.56476	0.3278:0.6722:0.0:0.0|0.3278:0.6722:0.0:0.0	.|.	563;604;604;604|.	C9JH87;E9PF03;O00339-2;O00339|.	.;.;.;MATN2_HUMAN|.	C|M	604;604;563;563;320;604|386;78	ENSP00000429977:R604C;ENSP00000254898:R604C;ENSP00000430221:R563C;ENSP00000429010:R320C;ENSP00000430487:R604C|.	ENSP00000254898:R604C|.	R|T	+|+	1|2	0|0	MATN2|MATN2	99099511|99099511	0.574000|0.574000	0.26684|0.26684	0.294000|0.294000	0.24946|0.24946	0.005000|0.005000	0.04900|0.04900	3.637000|3.637000	0.54324|0.54324	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.473	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1		
CPSF1	29894	broad.mit.edu	37	8	145620510	145620510	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr8:145620510C>T	ENST00000349769.3	-	28	3251	c.3157G>A	c.(3157-3159)Gag>Aag	p.E1053K	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1053					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.E1053K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCCTTCTCCTCGCCAGTCATG	0.612																																					p.E1053K	NSCLC(133;1088 1848 27708 34777 35269)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3157A	8						.						60.0	57.0	58.0					8																	145620510		2202	4300	6502	145591318	SO:0001583	missense	29894	exon28			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3157G>A	8.37:g.145620510C>T	ENSP00000339353:p.Glu1053Lys		145591318	NM_013291	Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598705	0.87055	.	.	ENSG00000071894	ENST00000349769	T	0.51325	0.71	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.72789	-0.4187	10	0.72032	D	0.01	-13.1137	14.8037	0.69935	0.0:1.0:0.0:0.0	.	1053	Q10570	CPSF1_HUMAN	K	1053	ENSP00000339353:E1053K	ENSP00000339353:E1053K	E	-	1	0	CPSF1	145591318	1.000000	0.71417	0.963000	0.40424	0.805000	0.45488	5.264000	0.65513	2.358000	0.79984	0.561000	0.74099	GAG		0.612	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291	
SLC25A24	29957	broad.mit.edu	37	1	108703824	108703824	+	Missense_Mutation	SNP	G	G	T	rs151259113	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:108703824G>T	ENST00000565488.1	-	4	709	c.490C>A	c.(490-492)Cgt>Agt	p.R164S	SLC25A24_ENST00000370041.4_Missense_Mutation_p.R145S	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	164					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)	p.R145S(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TTCCAGAAACGGATAATTTCC	0.348																																					p.R164S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C490A	1						.						100.0	99.0	100.0					1																	108703824		2203	4300	6503	108505347	SO:0001583	missense	29957	exon4			AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.490C>A	1.37:g.108703824G>T	ENSP00000457733:p.Arg164Ser		108505347	NM_013386	B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629440	0.28978	.	.	ENSG00000085491	ENST00000264128;ENST00000370041	T	0.43294	0.95	5.53	3.65	0.41850	EF-hand-like domain (1);	0.369578	0.34200	N	0.004174	T	0.13030	0.0316	L	0.45698	1.435	0.80722	D	1	B;B	0.24920	0.114;0.052	B;B	0.22753	0.02;0.041	T	0.07309	-1.0779	10	0.07990	T	0.79	-2.6807	6.5836	0.22609	0.1506:0.0:0.7069:0.1425	.	164;145	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	S	164;145	ENSP00000359058:R145S	ENSP00000264128:R164S	R	-	1	0	SLC25A24	108505347	1.000000	0.71417	0.954000	0.39281	0.995000	0.86356	4.048000	0.57390	1.333000	0.45449	0.591000	0.81541	CGT		0.348	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386	
AHCYL1	10768	broad.mit.edu	37	1	110555558	110555558	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:110555558C>T	ENST00000369799.5	+	5	884	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	AHCYL1_ENST00000359172.3_Missense_Mutation_p.R126C|AHCYL1_ENST00000393614.4_Missense_Mutation_p.R126C|AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	173					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)	p.R173C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		GGCTCAGTGCCGCTGGTCTGC	0.522																																					p.R173C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C517T	1						.						95.0	83.0	87.0					1																	110555558		2203	4300	6503	110357081	SO:0001583	missense	10768	exon5			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.517C>T	1.37:g.110555558C>T	ENSP00000358814:p.Arg173Cys		110357081	NM_006621	B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	C	36	5.600752	0.96614	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.80480	-1.38;-1.38;-1.38	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.94149	0.8123	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95123	0.8248	10	0.87932	D	0	-19.8836	20.8794	0.99867	0.0:1.0:0.0:0.0	.	173	O43865	SAHH2_HUMAN	C	173;126;126	ENSP00000358814:R173C;ENSP00000352092:R126C;ENSP00000377238:R126C	ENSP00000352092:R126C	R	+	1	0	AHCYL1	110357081	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.710000	0.61873	2.941000	0.99782	0.655000	0.94253	CGC		0.522	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1		
SLC16A1	6566	broad.mit.edu	37	1	113460504	113460504	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:113460504C>T	ENST00000538576.1	-	4	1355	c.524G>A	c.(523-525)aGa>aAa	p.R175K	SLC16A1_ENST00000369626.3_Missense_Mutation_p.R175K|SLC16A1_ENST00000433570.4_Missense_Mutation_p.R175K	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	175					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.R175K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	AAAGCTTCCTCTCCATCCAAA	0.552																																					p.R175K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G524A	1						.						53.0	55.0	54.0					1																	113460504		2203	4300	6503	113262027	SO:0001583	missense	6566	exon4			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.524G>A	1.37:g.113460504C>T	ENSP00000441065:p.Arg175Lys		113262027	NM_001166496	Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	CCDS858.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731520	0.89390	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580;ENST00000429288	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.74	5.74	0.90152	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	L	0.43646	1.37	0.80722	D	1	P;P	0.40578	0.722;0.722	B;P	0.44359	0.371;0.447	T	0.04752	-1.0929	10	0.40728	T	0.16	.	19.8931	0.96937	0.0:1.0:0.0:0.0	.	175;175	Q49A45;P53985	.;MOT1_HUMAN	K	175	ENSP00000358640:R175K;ENSP00000441065:R175K;ENSP00000416167:R175K;ENSP00000445061:R175K;ENSP00000399104:R175K;ENSP00000397106:R175K	ENSP00000358640:R175K	R	-	2	0	SLC16A1	113262027	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.767000	0.85331	2.873000	0.98535	0.563000	0.77884	AGA		0.552	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051	
VTCN1	79679	broad.mit.edu	37	1	117699344	117699344	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:117699344G>A	ENST00000369458.3	-	3	375	c.297C>T	c.(295-297)ggC>ggT	p.G99G	VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000359008.4_Silent_p.G102G|VTCN1_ENST00000539893.1_Silent_p.G4G	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1									p.G99G(1)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CTGCTGTCCGGCCTCTGAACA	0.458																																					p.G99G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C297T	1						.						113.0	104.0	107.0					1																	117699344		2203	4300	6503	117500867	SO:0001819	synonymous_variant	79679	exon3			BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.297C>T	1.37:g.117699344G>A			117500867	NM_024626		Silent	SNP	ENST00000369458.3	37	CCDS894.1																																																																																				0.458	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626	
ADAM30	11085	broad.mit.edu	37	1	120438357	120438357	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:120438357G>A	ENST00000369400.1	-	1	761	c.603C>T	c.(601-603)caC>caT	p.H201H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	201					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H201H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGTACTTTGGGTGTTTATAGG	0.403																																					p.H201H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603T	1						.						102.0	102.0	102.0					1																	120438357		2203	4300	6503	120239880	SO:0001819	synonymous_variant	11085	exon1			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.603C>T	1.37:g.120438357G>A			120239880	NM_021794	A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	37	CCDS907.1																																																																																				0.403	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
ATAD3B	83858	broad.mit.edu	37	1	1421166	1421166	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:1421166G>A	ENST00000308647.7	+	9	1027	c.911G>A	c.(910-912)aGc>aAc	p.S304N		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	304						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)	p.S304N(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGGCAGGTCAGCCGGCGGCTC	0.647																																					p.S304N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G911A	1						.						47.0	46.0	46.0					1																	1421166		2203	4295	6498	1411029	SO:0001583	missense	83858	exon9			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.911G>A	1.37:g.1421166G>A	ENSP00000311766:p.Ser304Asn		1411029	NM_031921	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	10.99	1.507710	0.27036	.	.	ENSG00000160072	ENST00000360489;ENST00000378737;ENST00000308647	D	0.93811	-3.29	2.26	2.26	0.28386	.	0.684600	0.16100	N	0.229603	D	0.90140	0.6919	L	0.47716	1.5	0.80722	D	1	P;B	0.36909	0.573;0.437	B;B	0.40134	0.32;0.171	D	0.86489	0.1796	10	0.27785	T	0.31	.	11.3553	0.49613	0.0:0.0:1.0:0.0	.	258;304	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	N	199;119;304	ENSP00000311766:S304N	ENSP00000311766:S304N	S	+	2	0	ATAD3B	1411029	0.588000	0.26799	0.938000	0.37757	0.021000	0.10359	2.060000	0.41394	1.253000	0.44018	0.205000	0.17691	AGC		0.647	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921	
VPS13D	55187	broad.mit.edu	37	1	12320804	12320804	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:12320804C>T	ENST00000358136.3	+	11	1295	c.1165C>T	c.(1165-1167)Cgt>Tgt	p.R389C	VPS13D_ENST00000356315.4_Missense_Mutation_p.R389C	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R389C(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAGATTTTGCGTGAACTGGT	0.413																																					p.R389C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1165T	1						.						94.0	94.0	94.0					1																	12320804		2203	4300	6503	12243391	SO:0001583	missense	55187	exon11			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.1165C>T	1.37:g.12320804C>T	ENSP00000350854:p.Arg389Cys		12243391	NM_018156		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924947	0.52759	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.66	5.66	0.87406	.	0.289408	0.34828	N	0.003659	T	0.39733	0.1089	L	0.38175	1.15	0.80722	D	1	B;B	0.15930	0.015;0.004	B;B	0.10450	0.005;0.002	T	0.24941	-1.0146	10	0.72032	D	0.01	.	12.6903	0.56970	0.0:0.9204:0.0:0.0796	.	389;389	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	C	389	ENSP00000348666:R389C;ENSP00000350854:R389C	ENSP00000348666:R389C	R	+	1	0	VPS13D	12243391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.466000	0.35310	2.657000	0.90304	0.655000	0.94253	CGT		0.413	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
AADACL4	343066	broad.mit.edu	37	1	12726163	12726163	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:12726163G>A	ENST00000376221.1	+	4	641	c.641G>A	c.(640-642)cGg>cAg	p.R214Q		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	214						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.R214Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GATCTTCCCCGGATCCGGGCT	0.572																																					p.R214Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G641A	1						.						84.0	87.0	86.0					1																	12726163		2203	4300	6503	12648750	SO:0001583	missense	343066	exon4				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.641G>A	1.37:g.12726163G>A	ENSP00000365395:p.Arg214Gln		12648750	NM_001013630		Missense_Mutation	SNP	ENST00000376221.1	37	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	9.728	1.161463	0.21538	.	.	ENSG00000204518	ENST00000376221	T	0.58506	0.33	4.23	-5.82	0.02333	Alpha/beta hydrolase fold-3 (1);	0.915226	0.09312	N	0.819496	T	0.36082	0.0954	N	0.11845	0.185	0.09310	N	0.999996	B	0.27416	0.178	B	0.28784	0.094	T	0.21211	-1.0252	10	0.37606	T	0.19	-2.5952	13.5302	0.61617	0.6569:0.0:0.3431:0.0	.	214	Q5VUY2	ADCL4_HUMAN	Q	214	ENSP00000365395:R214Q	ENSP00000365395:R214Q	R	+	2	0	AADACL4	12648750	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.843000	0.04350	-1.181000	0.02730	-0.136000	0.14681	CGG		0.572	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630	
NOTCH2	4853	broad.mit.edu	37	1	120468218	120468218	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:120468218C>T	ENST00000256646.2	-	25	4440	c.4221G>A	c.(4219-4221)tcG>tcA	p.S1407S	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1407	EGF-like 35. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.S1407S(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)		AGCGGCTACCCGAGAATGGTG	0.642			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.S1407S			Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4221A	1						.						41.0	43.0	43.0					1																	120468218		2202	4292	6494	120269741	SO:0001819	synonymous_variant	4853	exon25	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.4221G>A	1.37:g.120468218C>T			120269741	NM_024408	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1																																																																																				0.642	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
POLR3C	10623	broad.mit.edu	37	1	145608605	145608605	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:145608605G>A	ENST00000334163.3	-	3	362	c.202C>T	c.(202-204)Cac>Tac	p.H68Y	RNF115_ENST00000369291.5_5'Flank|POLR3C_ENST00000369294.1_Missense_Mutation_p.H68Y|POLR3C_ENST00000471254.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	68					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)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|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)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.H68Y(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CCACGTTTGTGCACTTGATAA	0.453																																					p.H68Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C202T	1						.						123.0	112.0	116.0					1																	145608605		2203	4300	6503	144319962	SO:0001583	missense	10623	exon3			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.202C>T	1.37:g.145608605G>A	ENSP00000334564:p.His68Tyr		144319962	NM_006468	O15317|Q9Y3R6	Missense_Mutation	SNP	ENST00000334163.3	37	CCDS921.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438724	0.43326	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.45276	0.9;0.9	4.76	4.76	0.60689	.	0.512588	0.23834	N	0.044102	T	0.11239	0.0274	L	0.29908	0.895	0.36192	D	0.850129	B;B;B	0.19073	0.033;0.033;0.022	B;B;B	0.11329	0.006;0.006;0.004	T	0.04481	-1.0948	10	0.02654	T	1	-15.064	10.36	0.43987	0.0:0.0:0.8043:0.1956	.	68;68;68	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	Y	68	ENSP00000334564:H68Y;ENSP00000358300:H68Y	ENSP00000334564:H68Y	H	-	1	0	POLR3C	144319962	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.264000	0.58859	2.461000	0.83175	0.563000	0.77884	CAC		0.453	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468	
FMO5	2330	broad.mit.edu	37	1	146687385	146687385	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:146687385A>C	ENST00000254090.4	-	3	651	c.263T>G	c.(262-264)gTc>gGc	p.V88G	FMO5_ENST00000441068.2_Missense_Mutation_p.V88G|FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000369272.3_Missense_Mutation_p.V88G|RP11-337C18.10_ENST00000606856.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	88						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.V88G(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ATACTCCAGGACCTGGGCATT	0.358																																					p.V88G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T263G	1						.						131.0	127.0	129.0					1																	146687385		2203	4300	6503	145154009	SO:0001583	missense	2330	exon2			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.263T>G	1.37:g.146687385A>C	ENSP00000254090:p.Val88Gly		145154009	NM_001144830	B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	CCDS926.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801915	0.90538	.	.	ENSG00000131781	ENST00000441068;ENST00000254090;ENST00000369272;ENST00000533174;ENST00000533848	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	6.14	6.14	0.99180	.	0.248545	0.46145	D	0.000301	T	0.77772	0.4180	M	0.92923	3.36	0.80722	D	1	P;D;P;D	0.59357	0.931;0.974;0.933;0.985	P;D;P;D	0.71184	0.857;0.972;0.799;0.972	D	0.83552	0.0102	10	0.87932	D	0	-10.9799	14.758	0.69583	1.0:0.0:0.0:0.0	.	88;88;88;88	Q9HA79;Q8IV22;P49326;C9JJD1	.;.;FMO5_HUMAN;.	G	88	ENSP00000416011:V88G;ENSP00000254090:V88G;ENSP00000358277:V88G;ENSP00000436429:V88G;ENSP00000432569:V88G	ENSP00000254090:V88G	V	-	2	0	FMO5	145154009	1.000000	0.71417	0.865000	0.33974	0.857000	0.48899	8.858000	0.92256	2.367000	0.80283	0.529000	0.55759	GTC		0.358	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461	
GJA8	2703	broad.mit.edu	37	1	147380239	147380239	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:147380239G>A	ENST00000369235.1	+	1	157	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	GJA8_ENST00000240986.4_Missense_Mutation_p.V53M			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	53					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.V53M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					ATCCGACTTCGTGTGCAACAC	0.592																																					p.V53M	Melanoma(76;1255 1795 8195 52096)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G157A	1						.						134.0	108.0	117.0					1																	147380239		2203	4300	6503	145846863	SO:0001583	missense	2703	exon2			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.157G>A	1.37:g.147380239G>A	ENSP00000358238:p.Val53Met		145846863	NM_005267	A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	18.65	3.669626	0.67814	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99167	-5.51;-5.51	5.0	5.0	0.66597	Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98950	0.9643	L	0.56340	1.77	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	D	0.99912	1.1204	10	0.62326	D	0.03	.	18.262	0.90039	0.0:0.0:1.0:0.0	.	53	P48165	CXA8_HUMAN	M	53	ENSP00000240986:V53M;ENSP00000358238:V53M	ENSP00000240986:V53M	V	+	1	0	GJA8	145846863	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.797000	0.85911	2.297000	0.77311	0.491000	0.48974	GTG		0.592	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267	
PLEKHO1	51177	broad.mit.edu	37	1	150131323	150131323	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:150131323C>T	ENST00000369124.4	+	6	1113	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W	PLEKHO1_ENST00000369126.1_Missense_Mutation_p.R96W|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.R245W	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	279	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R279W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTATCTCAGCGGGATGCTGC	0.657																																					p.R279W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C835T	1						.						26.0	31.0	29.0					1																	150131323		2202	4297	6499	148397947	SO:0001583	missense	51177	exon6			AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.835C>T	1.37:g.150131323C>T	ENSP00000358120:p.Arg279Trp		148397947	NM_016274	Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	CCDS945.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764378	0.69878	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124;ENST00000441340	T;T	0.54675	0.56;0.65	4.97	4.04	0.47022	.	0.351400	0.28790	N	0.014129	T	0.46580	0.1400	L	0.54323	1.7	0.45046	D	0.998061	D	0.69078	0.997	P	0.56434	0.798	T	0.53436	-0.8439	10	0.72032	D	0.01	-31.1806	7.277	0.26290	0.1763:0.7389:0.0:0.0847	.	279	Q53GL0	PKHO1_HUMAN	W	96;245;279;159	ENSP00000025469:R245W;ENSP00000358120:R279W	ENSP00000025469:R245W	R	+	1	2	PLEKHO1	148397947	0.995000	0.38212	1.000000	0.80357	0.892000	0.51952	0.771000	0.26633	1.253000	0.44018	0.655000	0.94253	CGG		0.657	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274	
RPRD2	23248	broad.mit.edu	37	1	150432768	150432768	+	Silent	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:150432768T>C	ENST00000369068.4	+	9	1390	c.1386T>C	c.(1384-1386)agT>agC	p.S462S	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Silent_p.S436S|RPRD2_ENST00000401000.4_Silent_p.S436S	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	462	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.S462S(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCCTTAGCAGTTTAACATCAG	0.388																																					p.S462S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1386C	1						.						51.0	48.0	49.0					1																	150432768		1854	4112	5966	148699392	SO:0001819	synonymous_variant	23248	exon9			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1386T>C	1.37:g.150432768T>C			148699392	NM_015203	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	ENST00000369068.4	37	CCDS44216.1																																																																																				0.388	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203	
CGN	57530	broad.mit.edu	37	1	151491863	151491863	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:151491863C>A	ENST00000271636.7	+	2	1001	c.868C>A	c.(868-870)Ctg>Atg	p.L290M		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	284	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.L290M(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCCACCATGCTGCAGGTCAG	0.562																																					p.L290M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C868A	1						.						30.0	31.0	30.0					1																	151491863		2203	4298	6501	149758487	SO:0001583	missense	57530	exon2			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.868C>A	1.37:g.151491863C>A	ENSP00000271636:p.Leu290Met		149758487	NM_020770	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	CCDS999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.15|16.15	3.042715|3.042715	0.55003|0.55003	.|.	.|.	ENSG00000143375|ENSG00000143375	ENST00000416743|ENST00000427934;ENST00000271636	.|T;T	.|0.65549	.|0.66;-0.16	5.18|5.18	0.927|0.927	0.19437|0.19437	.|.	.|0.747724	.|0.12483	.|N	.|0.465000	.|T	.|0.30885	.|0.0779	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	0.999995|0.999995	.|P	.|0.43477	.|0.808	.|B	.|0.41088	.|0.347	.|T	.|0.16070	.|-1.0415	.|10	.|0.44086	.|T	.|0.13	-9.3081|-9.3081	1.6422|1.6422	0.02755|0.02755	0.1643:0.4794:0.1716:0.1848|0.1643:0.4794:0.1716:0.1848	.|.	.|284	.|Q9P2M7	.|CING_HUMAN	X|M	6|290	.|ENSP00000410836:L290M;ENSP00000271636:L290M	.|ENSP00000271636:L290M	C|L	+|+	3|1	2|2	CGN|CGN	149758487|149758487	0.140000|0.140000	0.22579|0.22579	0.920000|0.920000	0.36463|0.36463	0.864000|0.864000	0.49448|0.49448	0.016000|0.016000	0.13377|0.13377	0.427000|0.427000	0.26145|0.26145	0.561000|0.561000	0.74099|0.74099	TGC|CTG		0.562	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770	
TCHH	7062	broad.mit.edu	37	1	152082765	152082765	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:152082765C>A	ENST00000368804.1	-	2	2927	c.2928G>T	c.(2926-2928)gaG>gaT	p.E976D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	976	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.E976D(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)			tctccggttcctctcccagca	0.562																																					p.E976D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2928T	1						.						135.0	139.0	138.0					1																	152082765		1894	4119	6013	150349389	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.2928G>T	1.37:g.152082765C>A	ENSP00000357794:p.Glu976Asp		150349389	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	9.321	1.058097	0.19987	.	.	ENSG00000159450	ENST00000368804	T	0.12774	2.65	3.35	-0.131	0.13494	.	.	.	.	.	T	0.05135	0.0137	N	0.24115	0.695	0.09310	N	1	D	0.67145	0.996	P	0.57679	0.825	T	0.30534	-0.9975	9	0.16420	T	0.52	.	6.7601	0.23536	0.0:0.4415:0.0:0.5585	.	976	Q07283	TRHY_HUMAN	D	976	ENSP00000357794:E976D	ENSP00000357794:E976D	E	-	3	2	TCHH	150349389	0.000000	0.05858	0.024000	0.17045	0.110000	0.19582	-0.293000	0.08320	-0.063000	0.13065	0.462000	0.41574	GAG		0.562	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
KPRP	448834	broad.mit.edu	37	1	152733122	152733122	+	Missense_Mutation	SNP	G	G	A	rs199539090	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:152733122G>A	ENST00000606109.1	+	1	1086	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	KPRP_ENST00000368773.1_Missense_Mutation_p.R353H			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	353	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R353H(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCAGACGCCGCTCCCAGAGC	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		14836	0.001		0.0	False		,,,				2504	0.001				p.R353H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1058A	1						.						46.0	49.0	48.0					1																	152733122		2203	4300	6503	150999746	SO:0001583	missense	448834	exon2			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1058G>A	1.37:g.152733122G>A	ENSP00000475216:p.Arg353His		150999746	NM_001025231		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.28	2.786217	0.49997	.	.	ENSG00000203786	ENST00000368773	T	0.13778	2.56	5.3	1.85	0.25348	.	0.679913	0.13632	N	0.373657	T	0.04634	0.0126	N	0.24115	0.695	0.09310	N	1	D	0.56521	0.976	P	0.44696	0.458	T	0.32402	-0.9908	10	0.44086	T	0.13	-0.7834	12.9913	0.58620	0.0:0.5794:0.4206:0.0	.	353	Q5T749	KPRP_HUMAN	H	353	ENSP00000357762:R353H	ENSP00000357762:R353H	R	+	2	0	KPRP	150999746	0.006000	0.16342	0.564000	0.28396	0.611000	0.37282	1.323000	0.33701	0.656000	0.30886	0.462000	0.41574	CGC		0.657	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
HCN3	57657	broad.mit.edu	37	1	155258121	155258121	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:155258121G>A	ENST00000368358.3	+	8	2200	c.2192G>A	c.(2191-2193)cGt>cAt	p.R731H	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	731	Pro-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R731H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTCCTGGGCGTAAGGGATCA	0.687																																					p.R731H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2192A	1						.						29.0	32.0	31.0					1																	155258121		2203	4300	6503	153524745	SO:0001583	missense	57657	exon8			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.2192G>A	1.37:g.155258121G>A	ENSP00000357342:p.Arg731His		153524745	NM_020897	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966949	0.34659	.	.	ENSG00000143630	ENST00000368358	D	0.98192	-4.78	5.01	5.01	0.66863	.	0.000000	0.49305	D	0.000153	D	0.91751	0.7391	N	0.08118	0	0.28128	N	0.930337	D;P	0.60575	0.988;0.928	P;B	0.46543	0.52;0.288	D	0.88039	0.2780	10	0.44086	T	0.13	.	9.5441	0.39271	0.0939:0.0:0.9061:0.0	.	426;731	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	H	731	ENSP00000357342:R731H	ENSP00000357342:R731H	R	+	2	0	HCN3	153524745	0.788000	0.28762	0.944000	0.38274	0.956000	0.61745	1.416000	0.34759	2.764000	0.94973	0.557000	0.71058	CGT		0.687	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897	
ASH1L	55870	broad.mit.edu	37	1	155491150	155491150	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:155491150C>T	ENST00000368346.3	-	2	800	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	ASH1L_ENST00000392403.3_Missense_Mutation_p.R54Q|ASH1L_ENST00000548830.1_Missense_Mutation_p.R54Q			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	54					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.R54Q(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)			GTTTCTTTCTCGATTCCGTTT	0.408																																					p.R54Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G161A	1						.						309.0	310.0	310.0					1																	155491150		2203	4300	6503	153757774	SO:0001583	missense	55870	exon2			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.161G>A	1.37:g.155491150C>T	ENSP00000357330:p.Arg54Gln		153757774	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	C	18.85	3.712305	0.68730	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.88896	-2.44;-2.44	6.03	4.17	0.49024	.	0.498508	0.20108	N	0.099074	T	0.60702	0.2289	N	0.08118	0	0.29807	N	0.83194	B;B	0.28584	0.138;0.216	B;B	0.15870	0.006;0.014	T	0.52268	-0.8598	10	0.38643	T	0.18	.	11.1503	0.48455	0.1288:0.8048:0.0:0.0664	.	54;54	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	Q	54	ENSP00000357330:R54Q;ENSP00000376204:R54Q	ENSP00000357330:R54Q	R	-	2	0	ASH1L	153757774	0.999000	0.42202	0.947000	0.38551	0.915000	0.54546	2.681000	0.46926	0.883000	0.36040	0.557000	0.71058	CGA		0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
TMEM79	84283	broad.mit.edu	37	1	156255627	156255627	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:156255627G>A	ENST00000405535.2	+	2	781	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000295694.5_Missense_Mutation_p.V204M	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	204					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.V204M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGTGGCCTCCGTGGGAGCCGC	0.632																																					p.V204M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G610A	1						.						61.0	64.0	63.0					1																	156255627		2203	4300	6503	154522251	SO:0001583	missense	84283	exon2			BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.610G>A	1.37:g.156255627G>A	ENSP00000384748:p.Val204Met		154522251	NM_032323	B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	G	8.497	0.863318	0.17250	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.54071	0.59;0.59	5.66	2.02	0.26589	.	0.758888	0.12021	N	0.506986	T	0.08758	0.0217	N	0.03608	-0.345	0.09310	N	1	B	0.21905	0.062	B	0.19148	0.024	T	0.34279	-0.9835	10	0.20519	T	0.43	-14.6089	5.0847	0.14676	0.2205:0.0:0.5571:0.2224	.	204	Q9BSE2	TMM79_HUMAN	M	204	ENSP00000295694:V204M;ENSP00000384748:V204M	ENSP00000295694:V204M	V	+	1	0	TMEM79	154522251	0.050000	0.20438	0.470000	0.27216	0.822000	0.46500	0.138000	0.16016	0.554000	0.29061	0.555000	0.69702	GTG		0.632	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323	
PEAR1	375033	broad.mit.edu	37	1	156875168	156875168	+	Missense_Mutation	SNP	C	C	T	rs150236151		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:156875168C>T	ENST00000338302.3	+	5	484	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	PEAR1_ENST00000292357.7_Missense_Mutation_p.R87C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	87	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.R87C(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCACCGCCAGCGCCTGCAGTG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		16796	0.001		0.0	False		,,,				2504	0.0				p.R87C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C259T	1						.						64.0	57.0	59.0					1																	156875168		2203	4300	6503	155141792	SO:0001583	missense	375033	exon4			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.259C>T	1.37:g.156875168C>T	ENSP00000344465:p.Arg87Cys		155141792	NM_001080471	Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	CCDS30892.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.83	3.232393	0.58777	.	.	ENSG00000187800	ENST00000338302;ENST00000455314;ENST00000292357	D;D;D	0.89552	-2.53;-1.77;-2.53	4.02	3.09	0.35607	EMI domain (1);	0.000000	0.41605	D	0.000845	D	0.89466	0.6723	L	0.58101	1.795	0.45108	D	0.99812	D	0.89917	1.0	D	0.81914	0.995	D	0.89373	0.3676	10	0.66056	D	0.02	.	8.8991	0.35484	0.4055:0.5945:0.0:0.0	.	87	Q5VY43	PEAR1_HUMAN	C	87	ENSP00000344465:R87C;ENSP00000389742:R87C;ENSP00000292357:R87C	ENSP00000292357:R87C	R	+	1	0	PEAR1	155141792	1.000000	0.71417	0.835000	0.33067	0.961000	0.63080	1.211000	0.32382	0.874000	0.35823	0.655000	0.94253	CGC		0.652	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471	
MMP23B	8510	broad.mit.edu	37	1	1572825	1572825	+	IGR	SNP	A	A	G	rs375978633	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:1572825A>G	ENST00000356026.5	+	0	1326				CDK11B_ENST00000407249.3_Silent_p.Y508Y|CDK11B_ENST00000340677.5_Silent_p.Y495Y|CDK11B_ENST00000341832.6_Silent_p.Y461Y|CDK11B_ENST00000317673.7_Silent_p.Y506Y			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y508Y(1)		large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	CGTGCTCCACATAGTTCATCA	0.617													.|||	7	0.00139776	0.0	0.0	5008	,	,		22598	0.006		0.001	False		,,,				2504	0.0				p.Y503Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1509C	1						.	A	,,,,,	0,4256		0,0,2128	149.0	140.0	143.0		1260,747,1149,1158,1278,1251	-4.9	0.9	1		143	4,8458		0,4,4227	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CDK11B	NM_033486.1,NM_033487.1,NM_033488.1,NM_033489.1,NM_033492.1,NM_033493.1	,,,,,	0,4,6355	GG,GA,AA		0.0473,0.0,0.0315	,,,,,	420/698,249/527,383/661,386/664,426/704,417/695	1572825	4,12714	2128	4231	6359	1562688	SO:0001628	intergenic_variant	984	exon14				CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572825A>G			1562688	NM_033486	A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Silent	SNP	ENST00000356026.5	37	CCDS30559.1																																																																																				0.617	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2	NM_006983	
ARHGEF11	9826	broad.mit.edu	37	1	156918167	156918167	+	Silent	SNP	C	C	T	rs375267004	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:156918167C>T	ENST00000361409.2	-	22	2671	c.1929G>A	c.(1927-1929)gcG>gcA	p.A643A	ARHGEF11_ENST00000368194.3_Silent_p.A683A|ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000315174.8_Silent_p.A59A	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	643					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.A683A(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)					GAGTAGCCTCCGCAGCAGCAT	0.617													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19619	0.0		0.0	False		,,,				2504	0.0				p.A683A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2049A	1						.	C	,	3,4403	6.2+/-15.9	0,3,2200	94.0	80.0	85.0		1929,2049	-11.8	0.0	1		85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ARHGEF11	NM_014784.2,NM_198236.1	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	643/1523,683/1563	156918167	3,13003	2203	4300	6503	155184791	SO:0001819	synonymous_variant	9826	exon23			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.1929G>A	1.37:g.156918167C>T			155184791	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	CCDS1162.1																																																																																				0.617	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
AGMAT	79814	broad.mit.edu	37	1	15901300	15901300	+	Missense_Mutation	SNP	C	C	T	rs199886325		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:15901300C>T	ENST00000375826.3	-	6	1079	c.937G>A	c.(937-939)Gtg>Atg	p.V313M	DNAJC16_ENST00000375849.1_3'UTR|DNAJC16_ENST00000483270.1_3'UTR	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	313					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.V313M(2)		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)		CAGCCCATCACGTTCAGGCCT	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		21008	0.001		0.0	False		,,,				2504	0.0				p.V313M	NSCLC(126;1678 1780 25805 43508 49531)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G937A	1						.						126.0	106.0	113.0					1																	15901300		2203	4300	6503	15773887	SO:0001583	missense	79814	exon6			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.937G>A	1.37:g.15901300C>T	ENSP00000364986:p.Val313Met		15773887	NM_024758	Q5TDH1|Q9H5J3	Missense_Mutation	SNP	ENST00000375826.3	37	CCDS160.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	15.23	2.771109	0.49680	.	.	ENSG00000116771	ENST00000375826	D	0.86366	-2.11	5.93	3.02	0.34903	Ureohydrolase domain (1);	0.245141	0.41605	D	0.000852	D	0.86814	0.6023	M	0.81179	2.53	0.39136	D	0.961941	B	0.25521	0.128	B	0.35770	0.21	D	0.83799	0.0235	10	0.54805	T	0.06	-21.7355	5.5346	0.17003	0.1508:0.6384:0.0:0.2109	.	313	Q9BSE5	SPEB_HUMAN	M	313	ENSP00000364986:V313M	ENSP00000364986:V313M	V	-	1	0	AGMAT	15773887	0.866000	0.29940	0.974000	0.42286	0.954000	0.61252	0.971000	0.29396	0.822000	0.34565	0.603000	0.83216	GTG		0.463	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758	
MNDA	4332	broad.mit.edu	37	1	158811985	158811985	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:158811985T>G	ENST00000368141.4	+	2	303	c.42T>G	c.(40-42)ttT>ttG	p.F14L	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	14	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.F14L(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)					TGAAAGGATTTGAGCTCATGG	0.313																																					p.F14L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T42G	1						.						67.0	66.0	67.0					1																	158811985		2203	4300	6503	157078609	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.42T>G	1.37:g.158811985T>G	ENSP00000357123:p.Phe14Leu		157078609	NM_002432		Missense_Mutation	SNP	ENST00000368141.4	37	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.223778	0.00283	.	.	ENSG00000163563	ENST00000368141	T	0.10573	2.86	3.51	-7.02	0.01589	Pyrin (2);	.	.	.	.	T	0.00328	0.0010	N	0.00325	-1.645	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35400	-0.9790	9	0.02654	T	1	-0.0047	2.5485	0.04742	0.1409:0.106:0.328:0.4252	.	14	P41218	MNDA_HUMAN	L	14	ENSP00000357123:F14L	ENSP00000357123:F14L	F	+	3	2	MNDA	157078609	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.081000	0.00613	-4.118000	0.00072	-2.848000	0.00103	TTT		0.313	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432	
IGSF8	93185	broad.mit.edu	37	1	160062744	160062744	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:160062744G>A	ENST00000368086.1	-	4	1498	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	IGSF8_ENST00000460351.1_5'Flank|IGSF8_ENST00000314485.7_Missense_Mutation_p.R428W			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	428					cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R428W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGGAGAGGCCGGGAACGGGCA	0.642																																					p.R428W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1282T	1						.						33.0	39.0	37.0					1																	160062744		2203	4300	6503	158329368	SO:0001583	missense	93185	exon4			AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1282C>T	1.37:g.160062744G>A	ENSP00000357065:p.Arg428Trp		158329368	NM_052868	Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490309	0.44249	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475	T;T	0.05258	3.47;3.47	3.17	3.17	0.36434	Immunoglobulin subtype (1);	0.245363	0.27841	U	0.017633	T	0.05960	0.0155	L	0.36672	1.1	0.27780	N	0.943204	D	0.89917	1.0	D	0.64144	0.922	T	0.12041	-1.0563	10	0.66056	D	0.02	-12.104	8.1705	0.31252	0.0:0.2491:0.7509:0.0	.	428	Q969P0	IGSF8_HUMAN	W	428	ENSP00000316664:R428W;ENSP00000357065:R428W	ENSP00000316664:R428W	R	-	1	2	IGSF8	158329368	0.997000	0.39634	1.000000	0.80357	0.938000	0.57974	2.094000	0.41719	1.589000	0.49982	0.313000	0.20887	CGG		0.642	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868	
Unknown	0	broad.mit.edu	37	1	16134130	16134130	+	IGR	SNP	G	G	A	rs373188682		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:16134130G>A								FBLIM1 (21041 upstream) : RP11-169K16.9 (26429 downstream)																							TCTTTTGCTCGTCCTCCAGTC	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		18502	0.0		0.0	False		,,,				2504	0.001				p.D5D												.	.	0			c.C15T	1						.	G		0,4406		0,0,2203	72.0	69.0	70.0		15	-3.3	0.0	1		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UQCRHL	NM_001089591.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		5/92	16134130	1,13005	2203	4300	6503	16006717	SO:0001628	intergenic_variant	440567	exon1																															1.37:g.16134130G>A			16006717	NM_001089591		Silent	SNP		37																																																																																				0	0.488								
SPEN	23013	broad.mit.edu	37	1	16260808	16260808	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:16260808C>T	ENST00000375759.3	+	11	8277	c.8073C>T	c.(8071-8073)aaC>aaT	p.N2691N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2691	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.N2691N(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGCCCGTGAACGTCCTGAAAG	0.597																																					p.N2691N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8073T	1						.						73.0	77.0	76.0					1																	16260808		2203	4300	6503	16133395	SO:0001819	synonymous_variant	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8073C>T	1.37:g.16260808C>T			16133395	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																				0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
ZBTB17	7709	broad.mit.edu	37	1	16273537	16273537	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:16273537G>A	ENST00000375743.4	-	4	519	c.287C>T	c.(286-288)gCc>gTc	p.A96V	ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000375733.2_Missense_Mutation_p.A96V|ZBTB17_ENST00000537142.1_Missense_Mutation_p.P7S|ZBTB17_ENST00000448462.2_Intron	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	96	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A96V(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGAAAGTGGCCACGGCCAG	0.612																																					p.A96V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C287T	1						.						88.0	81.0	83.0					1																	16273537		2203	4300	6503	16146124	SO:0001583	missense	7709	exon4			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.287C>T	1.37:g.16273537G>A	ENSP00000364895:p.Ala96Val		16146124	NM_003443	A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	CCDS165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.540517|5.540517	0.96474|0.96474	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654|ENST00000537142	T;T|T	0.58940|0.09255	0.3;0.3|3.0	5.48|5.48	5.48|5.48	0.80851|0.80851	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.24736|0.24736	0.0600|0.0600	M|M	0.94063|0.94063	3.49|3.49	0.80722|0.80722	D|D	1|1	D;B;D;D|P	0.89917|0.41848	1.0;0.018;1.0;1.0|0.763	D;B;D;D|B	0.87578|0.33960	0.998;0.038;0.997;0.994|0.173	T|T	0.45963|0.45963	-0.9225|-0.9225	10|9	0.87932|0.87932	D|D	0|0	.|.	19.3344|19.3344	0.94309|0.94309	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	96;20;96;96|7	B4DGV6;B4DYU5;Q13105-2;Q13105|F5H411	.;.;.;ZBT17_HUMAN|.	V|S	96|7	ENSP00000364895:A96V;ENSP00000364885:A96V|ENSP00000438529:P7S	ENSP00000364885:A96V|ENSP00000438529:P7S	A|P	-|-	2|1	0|0	ZBTB17|ZBTB17	16146124|16146124	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	9.414000|9.414000	0.97362|0.97362	2.572000|2.572000	0.86782|0.86782	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.612	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443	
ADAMTS4	9507	broad.mit.edu	37	1	161168328	161168328	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:161168328C>T	ENST00000367996.5	-	1	518	c.90G>A	c.(88-90)ccG>ccA	p.P30P	NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_Silent_p.P30P	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	30					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.P30P(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GCCAGGAGAGCGGCACAATGG	0.687																																					p.P30P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G90A	1						.						19.0	12.0	14.0					1																	161168328		2157	4248	6405	159434952	SO:0001819	synonymous_variant	9507	exon1			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.90G>A	1.37:g.161168328C>T			159434952	NM_005099	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	37	CCDS1223.1																																																																																				0.687	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099	
NADK	65220	broad.mit.edu	37	1	1685603	1685603	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:1685603C>T	ENST00000341426.5	-	10	1209	c.988G>A	c.(988-990)Gcg>Acg	p.A330T	NADK_ENST00000492768.1_5'Flank|NADK_ENST00000344463.4_Missense_Mutation_p.A475T|NADK_ENST00000341991.3_Missense_Mutation_p.A330T|NADK_ENST00000378625.1_Missense_Mutation_p.A475T|NADK_ENST00000342348.5_Missense_Mutation_p.A298T	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	330	Poly-Ala.				ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.A330T(1)		NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCCCCGGCCGCGGCCGCATAC	0.716																																					p.A298T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G892A	1						.						35.0	45.0	42.0					1																	1685603		2203	4296	6499	1675463	SO:0001583	missense	65220	exon8			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.988G>A	1.37:g.1685603C>T	ENSP00000341679:p.Ala330Thr		1675463	NM_001198995	A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811492	0.70797	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.57	4.66	0.58398	ATP-NAD kinase, PpnK-type, all-beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	T	0.71634	0.3363	H	0.94222	3.51	0.58432	D	0.999996	D;D;D	0.89917	0.999;0.995;1.0	D;D;D	0.67900	0.953;0.949;0.954	T	0.80246	-0.1462	10	0.87932	D	0	-26.7725	13.1765	0.59630	0.0:0.9222:0.0:0.0778	.	298;475;330	F5GXR5;Q5QPS4;O95544	.;.;NADK_HUMAN	T	330;330;475;475;298	ENSP00000341679:A330T;ENSP00000344340:A330T;ENSP00000367890:A475T;ENSP00000340925:A475T;ENSP00000339727:A298T	ENSP00000341679:A330T	A	-	1	0	NADK	1675463	1.000000	0.71417	0.019000	0.16419	0.853000	0.48598	7.329000	0.79170	1.360000	0.45960	0.561000	0.74099	GCG		0.716	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018	
RCSD1	92241	broad.mit.edu	37	1	167653147	167653147	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:167653147C>T	ENST00000367854.3	+	2	348	c.17C>T	c.(16-18)gCa>gTa	p.A6V	RCSD1_ENST00000537350.1_Missense_Mutation_p.A6V	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	6					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)	p.A6V(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)					GAAAGACCGGCAGAGACCAAT	0.577																																					p.A6V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C17T	1						.						153.0	162.0	159.0					1																	167653147		2203	4300	6503	165919771	SO:0001583	missense	92241	exon2			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.17C>T	1.37:g.167653147C>T	ENSP00000356828:p.Ala6Val		165919771	NM_052862	B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753309	0.31046	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.55588	0.51;0.61	5.25	4.34	0.51931	.	0.721132	0.13078	N	0.415545	T	0.26557	0.0649	L	0.36672	1.1	0.23640	N	0.99723	B;B	0.30851	0.297;0.191	B;B	0.31390	0.129;0.09	T	0.08472	-1.0720	9	0.39692	T	0.17	-3.6409	11.4774	0.50306	0.0:0.9163:0.0:0.0837	.	6;6	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	V	6	ENSP00000356828:A6V;ENSP00000439409:A6V	ENSP00000355291:A6V	A	+	2	0	RCSD1	165919771	0.689000	0.27690	0.174000	0.22961	0.086000	0.17979	2.760000	0.47581	1.195000	0.43115	0.655000	0.94253	GCA		0.577	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862	
PRRC2C	23215	broad.mit.edu	37	1	171501621	171501621	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:171501621G>A	ENST00000338920.4	+	12	1625	c.1388G>A	c.(1387-1389)cGt>cAt	p.R463H	PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000367742.3_Missense_Mutation_p.R465H|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R465H|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R463H	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	463					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R465H(1)									GAACGTGCTCGTAAACGGCGT	0.473																																					p.R463H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1388A	1						.						74.0	66.0	69.0					1																	171501621		2203	4300	6503	169768245	SO:0001583	missense	23215	exon12			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.1388G>A	1.37:g.171501621G>A	ENSP00000343629:p.Arg463His		169768245	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591013	0.66219	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	6.02	6.02	0.97574	.	0.000000	0.44285	D	0.000469	T	0.39545	0.1082	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.13602	-1.0503	10	0.72032	D	0.01	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	463;465	Q9Y520-4;E7EPN9	.;.	H	465;463;463;465;463;219;221	ENSP00000375928:R465H;ENSP00000410219:R463H;ENSP00000356716:R465H;ENSP00000343629:R463H	ENSP00000343629:R463H	R	+	2	0	PRRC2C	169768245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.244000	0.95423	2.857000	0.98124	0.650000	0.86243	CGT		0.473	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
PADI6	353238	broad.mit.edu	37	1	17714914	17714914	+	RNA	SNP	G	G	A	rs529584194		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:17714914G>A	ENST00000434762.2	+	0	768							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.D240N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCTGGGGCCCGACCAGCACGC	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18604	0.0		0.0	False		,,,				2504	0.0				p.D240N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G718A	1						.						57.0	55.0	56.0					1																	17714914		1868	4103	5971	17587501			353238	exon7			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17714914G>A			17587501	NM_207421	Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37																																																																																					0.527	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421	
PADI6	353238	broad.mit.edu	37	1	17720552	17720552	+	RNA	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:17720552G>A	ENST00000434762.2	+	0	1207							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.D385N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGCCGATCTCGATGAGTTCCC	0.547																																					p.R386Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1157A	1						.						98.0	105.0	103.0					1																	17720552		1991	4158	6149	17593139			353238	exon10			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17720552G>A			17593139	NM_207421	Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37																																																																																					0.547	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421	
RCC2	55920	broad.mit.edu	37	1	17749225	17749225	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:17749225G>A	ENST00000375436.4	-	5	818	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	RCC2_ENST00000375433.3_Missense_Mutation_p.R211W	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	211					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)	p.R211W(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GTGTGGTTCCGCCCACATGCT	0.592																																					p.R211W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C631T	1						.						110.0	89.0	96.0					1																	17749225		2203	4300	6503	17621812	SO:0001583	missense	55920	exon4				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.631C>T	1.37:g.17749225G>A	ENSP00000364585:p.Arg211Trp		17621812	NM_001136204	Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	CCDS181.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078040	0.55753	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.84944	-1.92;-1.92	5.1	3.08	0.35506	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.87010	0.6071	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87987	0.2747	10	0.66056	D	0.02	-32.4312	13.3867	0.60799	0.0:0.0:0.718:0.282	.	211	Q9P258	RCC2_HUMAN	W	211	ENSP00000364585:R211W;ENSP00000364582:R211W	ENSP00000364582:R211W	R	-	1	2	RCC2	17621812	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.403000	0.66338	1.273000	0.44346	0.555000	0.69702	CGG		0.592	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715	
RABGAP1L	9910	broad.mit.edu	37	1	174340165	174340165	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:174340165G>A	ENST00000251507.4	+	12	1688	c.1514G>A	c.(1513-1515)tGt>tAt	p.C505Y	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.C468Y|RABGAP1L_ENST00000367689.3_Missense_Mutation_p.C152Y	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.C505Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TCTAAGGATTGTCCTGAGAAG	0.318																																					p.C505Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1514A	1						.						112.0	112.0	112.0					1																	174340165		2203	4300	6503	172606788	SO:0001583	missense	9910	exon12			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1514G>A	1.37:g.174340165G>A	ENSP00000251507:p.Cys505Tyr		172606788	NM_014857	B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329714	0.81690	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95076	0.8405	M	0.83384	2.64	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.991;0.995;0.995;0.998	D	0.94982	0.8126	10	0.66056	D	0.02	.	19.5364	0.95255	0.0:0.0:1.0:0.0	.	517;152;505;505;468	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	Y	468;152;505;517;517	ENSP00000350027:C468Y;ENSP00000356662:C152Y;ENSP00000251507:C505Y;ENSP00000403136:C517Y	ENSP00000251507:C505Y	C	+	2	0	RABGAP1L	172606788	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.143000	0.94623	2.789000	0.95967	0.655000	0.94253	TGT		0.318	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765	
TDRD5	163589	broad.mit.edu	37	1	179660017	179660017	+	Missense_Mutation	SNP	G	G	A	rs188949880		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:179660017G>A	ENST00000367614.1	+	17	3244	c.2885G>A	c.(2884-2886)cGg>cAg	p.R962Q	TDRD5_ENST00000444136.1_Missense_Mutation_p.R1016Q|TDRD5_ENST00000294848.8_Missense_Mutation_p.R962Q	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	962					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.R962Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GCTGCCGCACGGTTAGCTACA	0.522													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19171	0.0		0.0	False		,,,				2504	0.0				p.R1016Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3047A	1						.						48.0	50.0	49.0					1																	179660017		2203	4300	6503	177926640	SO:0001583	missense	163589	exon18			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2885G>A	1.37:g.179660017G>A	ENSP00000356586:p.Arg962Gln		177926640	NM_001199085	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	22.1	4.244320	0.79912	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.60920	1.08;1.08;1.19;0.15	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.73776	0.3630	M	0.68952	2.095	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.67237	-0.5721	10	0.87932	D	0	-28.0338	14.7519	0.69533	0.0:0.0:1.0:0.0	.	1016;962	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	Q	962;962;1016;472	ENSP00000356586:R962Q;ENSP00000294848:R962Q;ENSP00000406052:R1016Q;ENSP00000410744:R472Q	ENSP00000294848:R962Q	R	+	2	0	TDRD5	177926640	0.325000	0.24660	0.023000	0.16930	0.897000	0.52465	3.276000	0.51646	2.614000	0.88457	0.655000	0.94253	CGG		0.522	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533	
NPL	80896	broad.mit.edu	37	1	182783968	182783968	+	Silent	SNP	G	G	A	rs150521146		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:182783968G>A	ENST00000367553.1	+	6	383	c.339G>A	c.(337-339)ccG>ccA	p.P113P	NPL_ENST00000367555.1_Silent_p.P113P|NPL_ENST00000367552.2_Silent_p.P113P|NPL_ENST00000367554.3_Silent_p.P94P|NPL_ENST00000258317.2_Silent_p.P113P|NPL_ENST00000463899.1_3'UTR	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	113					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)	p.P113P(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						TCATTGCACCGTTCTTCCTCA	0.433																																					p.P113P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G339A	1						.	G	,,,,	1,4405	2.1+/-5.4	0,1,2202	151.0	124.0	133.0		282,339,339,339,339	0.0	1.0	1	dbSNP_134	133	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NPL	NM_001200050.1,NM_001200051.1,NM_001200052.1,NM_001200056.1,NM_030769.2	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	94/302,113/241,113/231,113/285,113/321	182783968	1,13005	2203	4300	6503	181050591	SO:0001819	synonymous_variant	80896	exon6			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.339G>A	1.37:g.182783968G>A			181050591	NM_030769	B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Silent	SNP	ENST00000367553.1	37	CCDS1350.1																																																																																				0.433	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769	
DHX9	1660	broad.mit.edu	37	1	182852428	182852428	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:182852428C>T	ENST00000367549.3	+	25	3179	c.3069C>T	c.(3067-3069)caC>caT	p.H1023H	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1023					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.H1023H(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CACTTATCCACAAATCATCTG	0.398																																					p.H1023H	Colon(69;210 1162 3697 13559 39565)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3069T	1						.						123.0	104.0	110.0					1																	182852428		1900	4119	6019	181119051	SO:0001819	synonymous_variant	1660	exon25			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3069C>T	1.37:g.182852428C>T			181119051	NM_001357	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	CCDS41444.1																																																																																				0.398	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588	
HMCN1	83872	broad.mit.edu	37	1	186043907	186043907	+	Missense_Mutation	SNP	C	C	T	rs138928800	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:186043907C>T	ENST00000271588.4	+	53	8403	c.8174C>T	c.(8173-8175)gCg>gTg	p.A2725V	HMCN1_ENST00000367492.2_Missense_Mutation_p.A2725V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2725	Ig-like C2-type 25.				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.A2725V(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						AATATTGCTGCGAATGGACAC	0.383													C|||	8	0.00159744	0.0	0.0	5008	,	,		14913	0.003		0.005	False		,,,				2504	0.0				p.A2725V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8174T	1						.	C	VAL/ALA	0,4406		0,0,2203	120.0	115.0	117.0		8174	2.2	0.5	1	dbSNP_134	117	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HMCN1	NM_031935.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	2725/5636	186043907	2,13004	2203	4300	6503	184310530	SO:0001583	missense	83872	exon53			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.8174C>T	1.37:g.186043907C>T	ENSP00000271588:p.Ala2725Val		184310530	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	5	0.0022893772893772895	0	0.0	0	0.0	1	0.0017482517482517483	4	0.005277044854881266	C	14.07	2.424994	0.43020	0.0	2.33E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66280	-0.2;-0.2	5.47	2.16	0.27623	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.219005	0.47093	D	0.000242	T	0.36552	0.0971	N	0.16602	0.42	0.44123	D	0.996904	D	0.56521	0.976	P	0.50270	0.636	T	0.26849	-1.0091	10	0.24483	T	0.36	.	2.7623	0.05310	0.1341:0.4973:0.132:0.2367	.	2725	Q96RW7	HMCN1_HUMAN	V	2725	ENSP00000271588:A2725V;ENSP00000356462:A2725V	ENSP00000271588:A2725V	A	+	2	0	HMCN1	184310530	0.956000	0.32656	0.476000	0.27291	0.988000	0.76386	2.173000	0.42472	0.660000	0.30964	0.491000	0.48974	GCG		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
ASPM	259266	broad.mit.edu	37	1	197091052	197091052	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:197091052C>T	ENST00000367409.4	-	16	4119	c.3863G>A	c.(3862-3864)cGc>cAc	p.R1288H	ASPM_ENST00000294732.7_Missense_Mutation_p.R1288H|ASPM_ENST00000367408.1_Missense_Mutation_p.R538H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1288					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R1288H(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TACCTGATGGCGTTTGAGATC	0.313																																					p.R1288H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3863A	1						.						116.0	117.0	117.0					1																	197091052		2203	4299	6502	195357675	SO:0001583	missense	259266	exon16			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3863G>A	1.37:g.197091052C>T	ENSP00000356379:p.Arg1288His		195357675	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953953	0.34471	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	D;T;T	0.81579	-1.51;-0.58;-0.58	5.84	-2.21	0.06973	.	1.103920	0.06881	N	0.802515	T	0.59918	0.2229	N	0.17474	0.49	0.09310	N	1	B;B	0.22683	0.008;0.073	B;B	0.17722	0.001;0.019	T	0.43065	-0.9414	10	0.11182	T	0.66	.	5.0673	0.14589	0.4247:0.1856:0.0:0.3897	.	1288;1288	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	H	1288;1288;538	ENSP00000356379:R1288H;ENSP00000294732:R1288H;ENSP00000356378:R538H	ENSP00000294732:R1288H	R	-	2	0	ASPM	195357675	0.050000	0.20438	0.004000	0.12327	0.979000	0.70002	0.474000	0.22148	-0.203000	0.10251	0.655000	0.94253	CGC		0.313	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
PTPRC	5788	broad.mit.edu	37	1	198665864	198665864	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:198665864A>G	ENST00000367376.2	+	4	289	c.118A>G	c.(118-120)Agt>Ggt	p.S40G	PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.S40G|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.S42G|PTPRC_ENST00000391970.3_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	40					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.S40G(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						AAAGATGCCCAGTGTTCCACT	0.418																																					p.S40G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A118G	1						.						147.0	146.0	147.0					1																	198665864		2203	4300	6503	196932487	SO:0001583	missense	5788	exon4			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.118A>G	1.37:g.198665864A>G	ENSP00000356346:p.Ser40Gly		196932487	NM_002838	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	A	16.73	3.204021	0.58234	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000442510;ENST00000418674	T	0.03035	4.07	5.33	-4.33	0.03677	Protein tyrosine phosphatase, receptor type, N terminal (1);	1.225800	0.05834	N	0.618022	T	0.06005	0.0156	L	0.47716	1.5	0.09310	N	1	P;P;P	0.52170	0.901;0.946;0.951	P;P;P	0.52758	0.607;0.671;0.708	T	0.33317	-0.9873	10	0.51188	T	0.08	.	2.2181	0.03965	0.3111:0.3687:0.0794:0.2408	.	81;40;40	Q6Q1P2;E9PC28;P08575	.;.;PTPRC_HUMAN	G	42;40;40;81;40;40	ENSP00000193532:S40G	ENSP00000271610:S81G	S	+	1	0	PTPRC	196932487	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.364000	0.07583	-0.324000	0.08589	0.533000	0.62120	AGT		0.418	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
PTPRC	5788	broad.mit.edu	37	1	198685924	198685924	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:198685924C>T	ENST00000367376.2	+	13	1570	c.1399C>T	c.(1399-1401)Cgt>Tgt	p.R467C	PTPRC_ENST00000594404.1_Missense_Mutation_p.R306C|PTPRC_ENST00000352140.3_Missense_Mutation_p.R419C|PTPRC_ENST00000348564.6_Missense_Mutation_p.R308C|PTPRC_ENST00000442510.2_Missense_Mutation_p.R469C	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	467	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.R467C(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						AAAAGTGCAACGTAATGGAAG	0.308																																					p.R306C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C916T	1						.						86.0	89.0	88.0					1																	198685924		2202	4300	6502	196952547	SO:0001583	missense	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.1399C>T	1.37:g.198685924C>T	ENSP00000356346:p.Arg467Cys		196952547	NM_080921	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	C	14.86	2.662255	0.47572	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.54071	0.59	4.43	3.5	0.40072	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000151	T	0.65207	0.2669	M	0.64404	1.975	0.18873	N	0.999988	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.70016	0.967;0.964;0.927;0.951;0.964	T	0.55101	-0.8193	10	0.51188	T	0.08	.	10.1512	0.42794	0.1974:0.8026:0.0:0.0	.	403;403;308;419;467	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	C	469;403;419;419;353;467;401;306	ENSP00000193532:R419C	ENSP00000306782:R306C	R	+	1	0	PTPRC	196952547	0.350000	0.24878	0.049000	0.19019	0.002000	0.02628	1.667000	0.37471	1.426000	0.47256	0.650000	0.86243	CGT		0.308	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
MYBPH	4608	broad.mit.edu	37	1	203143635	203143635	+	Missense_Mutation	SNP	C	C	T	rs146696842		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:203143635C>T	ENST00000255416.4	-	3	488	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	144	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.R144H(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)		TGCAGACACGCGCAGGAGGAA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		16196	0.0		0.0	False		,,,				2504	0.001				p.R144H	NSCLC(32;174 1025 14462 23899 42933)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G431A	1						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	49.0	50.0	50.0		431	5.7	1.0	1	dbSNP_134	50	0,8600		0,0,4300	no	missense	MYBPH	NM_004997.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	144/478	203143635	1,13005	2203	4300	6503	201410258	SO:0001583	missense	4608	exon3			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.431G>A	1.37:g.203143635C>T	ENSP00000255416:p.Arg144His		201410258	NM_004997	Q16886|Q86YC5	Missense_Mutation	SNP	ENST00000255416.4	37	CCDS30975.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895692	0.72639	2.27E-4	0.0	ENSG00000133055	ENST00000255416	T	0.60920	0.15	5.67	5.67	0.87782	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000087	T	0.82075	0.4958	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86063	0.1533	10	0.87932	D	0	.	17.2606	0.87068	0.0:1.0:0.0:0.0	.	144	Q13203	MYBPH_HUMAN	H	144	ENSP00000255416:R144H	ENSP00000255416:R144H	R	-	2	0	MYBPH	201410258	1.000000	0.71417	0.952000	0.39060	0.030000	0.12068	6.598000	0.74122	2.681000	0.91329	0.655000	0.94253	CGC		0.632	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997	
TMCC2	9911	broad.mit.edu	37	1	205210827	205210827	+	Silent	SNP	C	C	T	rs77588763		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:205210827C>T	ENST00000358024.3	+	2	791	c.402C>T	c.(400-402)taC>taT	p.Y134Y	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.Y56Y	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	134						integral component of membrane (GO:0016021)		p.Y134Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCGTCTCCTACGCCATGTCCC	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		16235	0.0		0.001	False		,,,				2504	0.0				p.Y134Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C402T	1						.						75.0	60.0	65.0					1																	205210827		2203	4300	6503	203477450	SO:0001819	synonymous_variant	9911	exon2			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.402C>T	1.37:g.205210827C>T			203477450	NM_014858	A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	37	CCDS30984.1																																																																																				0.667	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858	
DDOST	1650	broad.mit.edu	37	1	20981191	20981191	+	Silent	SNP	G	G	A	rs550450324		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:20981191G>A	ENST00000375048.3	-	6	717	c.612C>T	c.(610-612)gcC>gcT	p.A204A	DDOST_ENST00000415136.2_Silent_p.A167A|PINK1-AS_ENST00000451424.1_RNA|DDOST_ENST00000602624.2_Silent_p.A187A	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	204					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.A204A(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TATCAGGATCGGCCACCATCC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		16402	0.001		0.0	False		,,,				2504	0.0				p.A204A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C612T	1						.						37.0	36.0	36.0					1																	20981191		2194	4279	6473	20853778	SO:0001819	synonymous_variant	1650	exon6			D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"""oligosaccharyltransferase subunit 48"""	602202	"""dolichyl-diphosphooligosaccharide-protein glycosyltransferase"", ""dolichyl-diphosphooligosaccharide--protein glycosyltransferase"""			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.612C>T	1.37:g.20981191G>A			20853778	NM_005216	B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Silent	SNP	ENST00000375048.3	37	CCDS212.1																																																																																				0.582	DDOST-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007961.2	NM_005216	
PIGR	5284	broad.mit.edu	37	1	207106479	207106479	+	Missense_Mutation	SNP	C	C	T	rs529407537	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:207106479C>T	ENST00000356495.4	-	7	1921	c.1738G>A	c.(1738-1740)Gct>Act	p.A580T	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	580			A -> V (in dbSNP:rs291102).		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.A580T(2)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCAGGAGCAGCGTCTGCCTTC	0.542													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21107	0.0		0.0	False		,,,				2504	0.0				p.A580T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1738A	1						.						66.0	65.0	66.0					1																	207106479		2203	4300	6503	205173102	SO:0001583	missense	5284	exon7				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1738G>A	1.37:g.207106479C>T	ENSP00000348888:p.Ala580Thr		205173102	NM_002644	Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	7.714	0.695788	0.15106	.	.	ENSG00000162896	ENST00000356495	T	0.16457	2.34	2.02	1.02	0.19986	.	1.246790	0.05490	N	0.556394	T	0.09862	0.0242	L	0.27053	0.805	0.09310	N	1	P	0.38440	0.631	B	0.24394	0.053	T	0.29610	-1.0006	10	0.40728	T	0.16	-32.5565	6.2298	0.20728	0.0:0.6814:0.3186:0.0	.	580	P01833	PIGR_HUMAN	T	580	ENSP00000348888:A580T	ENSP00000348888:A580T	A	-	1	0	PIGR	205173102	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	0.011000	0.13264	0.384000	0.24942	0.555000	0.69702	GCT		0.542	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644	
EIF4G3	8672	broad.mit.edu	37	1	21268770	21268770	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:21268770G>A	ENST00000264211.8	-	8	903	c.709C>T	c.(709-711)Cta>Tta	p.L237L	EIF4G3_ENST00000356916.3_Silent_p.L248L|EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374927.4_Silent_p.L237L|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374937.3_Silent_p.L243L|EIF4G3_ENST00000400422.1_Silent_p.L237L|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000602326.1_Silent_p.L243L	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	237					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L237L(1)|p.L243L(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTGAGGACTAGCCTAAGGACT	0.438																																					p.L237L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C709T	1						.						121.0	130.0	127.0					1																	21268770		2203	4300	6503	21141357	SO:0001819	synonymous_variant	8672	exon9			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.709C>T	1.37:g.21268770G>A			21141357	NM_003760	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	CCDS214.1																																																																																				0.438	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
EIF4G3	8672	broad.mit.edu	37	1	21299535	21299535	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:21299535G>A	ENST00000264211.8	-	5	577	c.383C>T	c.(382-384)aCg>aTg	p.T128M	EIF4G3_ENST00000356916.3_Missense_Mutation_p.T139M|EIF4G3_ENST00000374935.3_Missense_Mutation_p.T128M|EIF4G3_ENST00000374927.4_Missense_Mutation_p.T128M|EIF4G3_ENST00000536266.1_5'Flank|EIF4G3_ENST00000374937.3_Missense_Mutation_p.T135M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.T128M|EIF4G3_ENST00000602326.1_Missense_Mutation_p.T135M	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	128					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.T128M(1)|p.T135M(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTGTTGCTGCGTAGGCACTAT	0.353																																					p.T128M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C383T	1						.						52.0	55.0	54.0					1																	21299535		2203	4300	6503	21172122	SO:0001583	missense	8672	exon6			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.383C>T	1.37:g.21299535G>A	ENSP00000264211:p.Thr128Met		21172122	NM_003760	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133725	0.94517	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059;ENST00000438975;ENST00000411888	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	6.05	6.05	0.98169	.	0.096440	0.64402	D	0.000001	T	0.41073	0.1143	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.997;0.996;0.998;0.997;0.997	T	0.16482	-1.0401	10	0.52906	T	0.07	-11.6556	20.1963	0.98243	0.0:0.0:1.0:0.0	.	128;324;128;254;135;128	B4DXR2;Q59GJ0;Q504Z1;B1AN89;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	M	128;325;128;128;135;254;128;139;128;166	ENSP00000264211:T128M;ENSP00000383274:T128M;ENSP00000364071:T128M;ENSP00000364073:T135M;ENSP00000364062:T128M;ENSP00000395381:T128M;ENSP00000396083:T166M	ENSP00000264211:T128M	T	-	2	0	EIF4G3	21172122	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	8.753000	0.91637	2.878000	0.98634	0.650000	0.86243	ACG		0.353	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
ANGEL2	90806	broad.mit.edu	37	1	213186456	213186456	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:213186456A>G	ENST00000366962.3	-	2	518	c.364T>C	c.(364-366)Tca>Cca	p.S122P	ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000540642.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	122								p.S122P(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)		CTTCGTTTTGATGAAGGCTCA	0.383																																					p.S122P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T364C	1						.						126.0	125.0	125.0					1																	213186456		2203	4299	6502	211253079	SO:0001583	missense	90806	exon2			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.364T>C	1.37:g.213186456A>G	ENSP00000355929:p.Ser122Pro		211253079	NM_144567	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.163657	0.38217	.	.	ENSG00000174606	ENST00000366962;ENST00000310246	T	0.24350	1.86	5.45	5.45	0.79879	.	0.259393	0.32533	N	0.005975	T	0.11793	0.0287	N	0.11560	0.145	0.80722	D	1	B;B	0.25441	0.126;0.003	B;B	0.22152	0.038;0.003	T	0.20773	-1.0265	10	0.21540	T	0.41	-7.7786	6.2539	0.20864	0.7719:0.0:0.0767:0.1515	.	100;122	Q96AL9;Q5VTE6	.;ANGE2_HUMAN	P	122;100	ENSP00000355929:S122P	ENSP00000309755:S100P	S	-	1	0	ANGEL2	211253079	1.000000	0.71417	0.953000	0.39169	0.997000	0.91878	3.100000	0.50275	2.181000	0.69327	0.460000	0.39030	TCA		0.383	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567	
TGFB2	7042	broad.mit.edu	37	1	218536744	218536744	+	Intron	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:218536744C>T	ENST00000366930.4	+	1	813				TGFB2_ENST00000366929.4_Missense_Mutation_p.L139F	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2						activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.L139F(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GTCCCAGGTGCTCTGTGGGTA	0.468																																					p.L139F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C415T	1						.						170.0	148.0	155.0					1																	218536744		1568	3582	5150	216603367	SO:0001627	intron_variant	7042	exon2			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.346+16355C>T	1.37:g.218536744C>T			216603367	NM_001135599	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	C	5.681	0.310284	0.10733	.	.	ENSG00000092969	ENST00000366929	T	0.75367	-0.93	4.55	3.64	0.41730	.	0.278277	0.30347	N	0.009824	T	0.69196	0.3084	N	0.19112	0.55	0.24700	N	0.993266	P;B	0.47106	0.89;0.01	D;B	0.66351	0.943;0.019	T	0.59478	-0.7447	10	0.06099	T	0.92	.	8.7359	0.34528	0.0:0.8996:0.0:0.1004	.	139;140	P61812-2;Q59EG9	.;.	F	139	ENSP00000355896:L139F	ENSP00000355896:L139F	L	+	1	0	TGFB2	216603367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.563000	0.23547	1.536000	0.49237	0.655000	0.94253	CTC		0.468	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238	
RAB3GAP2	25782	broad.mit.edu	37	1	220364618	220364618	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:220364618C>T	ENST00000358951.2	-	14	1395	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	427					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.D427N(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ATTTGTGCGTCGCGGTACCCT	0.478																																					p.D427N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1279A	1						.						39.0	37.0	37.0					1																	220364618		2203	4300	6503	218431241	SO:0001583	missense	25782	exon14			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1279G>A	1.37:g.220364618C>T	ENSP00000351832:p.Asp427Asn		218431241	NM_012414	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117820	0.77323	.	.	ENSG00000118873	ENST00000358951	T	0.58506	0.33	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	L	0.41492	1.28	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	T	0.67003	-0.5780	10	0.42905	T	0.14	.	19.7949	0.96477	0.0:1.0:0.0:0.0	.	427	Q9H2M9	RBGPR_HUMAN	N	427	ENSP00000351832:D427N	ENSP00000351832:D427N	D	-	1	0	RAB3GAP2	218431241	1.000000	0.71417	0.994000	0.49952	0.213000	0.24496	7.190000	0.77755	2.691000	0.91804	0.591000	0.81541	GAC		0.478	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	
HSPG2	3339	broad.mit.edu	37	1	22206927	22206927	+	Silent	SNP	G	G	A	rs139220302		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:22206927G>A	ENST00000374695.3	-	16	2203	c.2124C>T	c.(2122-2124)agC>agT	p.S708S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	708	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.S708S(2)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGGCGATGTCGCTAAGTCCCA	0.662																																					p.S708S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2124T	1						.	G		1,4405	2.1+/-5.4	0,1,2202	86.0	69.0	75.0		2124	-6.1	0.9	1	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous	HSPG2	NM_005529.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		708/4392	22206927	1,13005	2203	4300	6503	22079514	SO:0001819	synonymous_variant	3339	exon16			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2124C>T	1.37:g.22206927G>A			22079514	NM_005529	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	CCDS30625.1																																																																																				0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
MARK1	4139	broad.mit.edu	37	1	220825398	220825398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:220825398C>T	ENST00000366917.4	+	15	1908	c.1642C>T	c.(1642-1644)Cga>Tga	p.R548*	MARK1_ENST00000402574.1_Nonsense_Mutation_p.R413*|MARK1_ENST00000366918.4_Nonsense_Mutation_p.R526*					MAP/microtubule affinity-regulating kinase 1									p.R548*(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CCCCTCAGCACGACCCCGCCA	0.512																																					p.R548X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1642T	1						.						104.0	96.0	99.0					1																	220825398		2203	4300	6503	218892021	SO:0001587	stop_gained	4139	exon15			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1642C>T	1.37:g.220825398C>T	ENSP00000355884:p.Arg548*		218892021	NM_018650		Nonsense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	44	11.149198	0.99522	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	.	.	.	5.95	5.03	0.67393	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5565	0.76200	0.0:0.9329:0.0:0.0671	.	.	.	.	X	413;526;548	.	ENSP00000355884:R548X	R	+	1	2	MARK1	218892021	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.856000	0.69518	2.817000	0.96982	0.563000	0.77884	CGA		0.512	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1		
GALNT2	2590	broad.mit.edu	37	1	230415129	230415129	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:230415129C>T	ENST00000366672.4	+	16	1713	c.1641C>T	c.(1639-1641)agC>agT	p.S547S	RP5-956O18.3_ENST00000414640.1_RNA|GALNT2_ENST00000543760.1_Silent_p.S509S|GALNT2_ENST00000485438.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	547	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S547S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CGGCCAAGAGCGGGGGCCTAA	0.637																																					p.S547S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1641T	1						.						68.0	62.0	64.0					1																	230415129		2203	4300	6503	228481752	SO:0001819	synonymous_variant	2590	exon16			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1641C>T	1.37:g.230415129C>T			228481752	NM_004481	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	CCDS1582.1																																																																																				0.637	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481	
PGBD5	79605	broad.mit.edu	37	1	230472933	230472933	+	Silent	SNP	G	G	A	rs370784342	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:230472933G>A	ENST00000525115.1	-	4	812	c.789C>T	c.(787-789)aaC>aaT	p.N263N	PGBD5_ENST00000530424.1_5'Flank|PGBD5_ENST00000321327.2_Silent_p.N362N|PGBD5_ENST00000391860.1_Silent_p.N217N			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	263						integral component of membrane (GO:0016021)		p.N362N(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGCCTGCCGCGTTCCGGCACA	0.572													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		20696	0.0		0.0	False		,,,				2504	0.0				p.N263N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C789T	1						.	G		1,4405	2.1+/-5.4	0,1,2202	82.0	72.0	76.0		789	-6.7	0.0	1		76	0,8600		0,0,4300	no	coding-synonymous	PGBD5	NM_024554.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		263/456	230472933	1,13005	2203	4300	6503	228539556	SO:0001819	synonymous_variant	79605	exon4			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.789C>T	1.37:g.230472933G>A			228539556	NM_024554	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Silent	SNP	ENST00000525115.1	37																																																																																					0.572	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554	
KIAA1804	84451	broad.mit.edu	37	1	233489620	233489620	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:233489620G>A	ENST00000366624.3	+	3	1315	c.1054G>A	c.(1054-1056)Gtg>Atg	p.V352M	MLK4_ENST00000366623.3_Missense_Mutation_p.V352M	NM_032435.2	NP_115811.2												p.V352M(1)									TGGCCTCGCCGTGGCTTATGG	0.522																																					p.V352M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1054A	1						.						127.0	113.0	117.0					1																	233489620		2203	4300	6503	231556243	SO:0001583	missense	84451	exon3																														ENST00000366624.3:c.1054G>A	1.37:g.233489620G>A	ENSP00000355583:p.Val352Met		231556243	NM_032435		Missense_Mutation	SNP	ENST00000366624.3	37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104267	0.76983	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.84298	-1.83;-1.83	4.91	4.91	0.64330	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.90212	0.6940	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.91207	0.4996	10	0.87932	D	0	.	18.301	0.90163	0.0:0.0:1.0:0.0	.	352;352	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	M	352	ENSP00000355582:V352M;ENSP00000355583:V352M	ENSP00000355582:V352M	V	+	1	0	RP5-862P8.2	231556243	1.000000	0.71417	0.956000	0.39512	0.430000	0.31655	9.648000	0.98483	2.538000	0.85594	0.563000	0.77884	GTG		0.522	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1		
KIAA1804	84451	broad.mit.edu	37	1	233497907	233497907	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:233497907G>A	ENST00000366624.3	+	5	1681	c.1420G>A	c.(1420-1422)Gtg>Atg	p.V474M	MLK4_ENST00000366623.3_Missense_Mutation_p.V474M	NM_032435.2	NP_115811.2												p.V474M(2)									CGAGATCGACGTGCTGGAGCG	0.542																																					p.V474M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1420A	1						.						59.0	58.0	58.0					1																	233497907		2203	4300	6503	231564530	SO:0001583	missense	84451	exon5																														ENST00000366624.3:c.1420G>A	1.37:g.233497907G>A	ENSP00000355583:p.Val474Met		231564530	NM_032435		Missense_Mutation	SNP	ENST00000366624.3	37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720169	0.68844	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.76060	-0.87;-0.99	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000002	T	0.81093	0.4751	M	0.65975	2.015	0.80722	D	1	D;D	0.63880	0.975;0.993	P;P	0.61003	0.636;0.882	T	0.79482	-0.1785	10	0.35671	T	0.21	.	11.6727	0.51411	0.0808:0.0:0.9192:0.0	.	474;474	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	M	474	ENSP00000355582:V474M;ENSP00000355583:V474M	ENSP00000355582:V474M	V	+	1	0	RP5-862P8.2	231564530	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.610000	0.74178	2.525000	0.85131	0.655000	0.94253	GTG		0.542	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1		
TARBP1	6894	broad.mit.edu	37	1	234565409	234565409	+	Missense_Mutation	SNP	G	G	A	rs374573385		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:234565409G>A	ENST00000040877.1	-	16	2623	c.2624C>T	c.(2623-2625)tCg>tTg	p.S875L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	875					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.S875L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGAAGATGACGATTCTTCCAA	0.388																																					p.S875L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2624T	1						.	G	LEU/SER	0,4406		0,0,2203	74.0	75.0	75.0		2624	4.3	0.1	1		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	TARBP1	NM_005646.3	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	875/1622	234565409	1,13005	2203	4300	6503	232632032	SO:0001583	missense	6894	exon16				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2624C>T	1.37:g.234565409G>A	ENSP00000040877:p.Ser875Leu		232632032	NM_005646	Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522072	0.44866	0.0	1.16E-4	ENSG00000059588	ENST00000040877	T	0.33865	1.39	5.18	4.26	0.50523	.	0.622689	0.15906	N	0.238845	T	0.38348	0.1037	M	0.67953	2.075	0.31488	N	0.666281	B	0.15473	0.013	B	0.09377	0.004	T	0.45731	-0.9241	10	0.59425	D	0.04	-18.0552	12.3558	0.55174	0.0789:0.0:0.9211:0.0	.	875	Q13395	TARB1_HUMAN	L	875	ENSP00000040877:S875L	ENSP00000040877:S875L	S	-	2	0	TARBP1	232632032	0.027000	0.19231	0.091000	0.20842	0.506000	0.33950	2.137000	0.42130	1.314000	0.45095	-0.140000	0.14226	TCG		0.388	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646	
RBM34	23029	broad.mit.edu	37	1	235295057	235295057	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:235295057G>A	ENST00000408888.3	-	11	1494	c.1264C>T	c.(1264-1266)Cgc>Tgc	p.R422C	RBM34_ENST00000366606.3_Missense_Mutation_p.R417C|TOMM20_ENST00000366607.4_5'Flank|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	422						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R422C(1)		central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTCTTAGGGCGTCCACTTTTC	0.368																																					p.R422C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1264T	1						.						120.0	115.0	116.0					1																	235295057		1837	4093	5930	233361680	SO:0001583	missense	23029	exon11				CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.1264C>T	1.37:g.235295057G>A	ENSP00000386226:p.Arg422Cys		233361680	NM_015014	A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	ENST00000408888.3	37	CCDS41477.2	.	.	.	.	.	.	.	.	.	.	G	2.451	-0.326435	0.05350	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	T;T;T	0.15952	2.38;2.39;2.52	5.71	1.3	0.21679	.	1.538070	0.03650	N	0.240865	T	0.10423	0.0255	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30238	-0.9985	10	0.37606	T	0.19	3.6436	8.3649	0.32380	0.1644:0.0:0.6995:0.1362	.	422	P42696	RBM34_HUMAN	C	422;417;400	ENSP00000386226:R422C;ENSP00000355565:R417C;ENSP00000400000:R400C	ENSP00000355565:R417C	R	-	1	0	RBM34	233361680	0.001000	0.12720	0.037000	0.18230	0.001000	0.01503	0.547000	0.23299	0.358000	0.24211	-1.305000	0.01319	CGC		0.368	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014	
CEP170	9859	broad.mit.edu	37	1	243362374	243362374	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:243362374C>G	ENST00000366542.1	-	7	670	c.619G>C	c.(619-621)Gct>Cct	p.A207P	CEP170_ENST00000366543.1_Missense_Mutation_p.A207P|CEP170_ENST00000366544.1_Missense_Mutation_p.A207P	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	207						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.A207P(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GATGTTCCAGCTTCATGGTTT	0.403																																					p.A207P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G619C	1						.						88.0	73.0	78.0					1																	243362374		1822	4080	5902	241428997	SO:0001583	missense	9859	exon7			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.619G>C	1.37:g.243362374C>G	ENSP00000355500:p.Ala207Pro		241428997	NM_001042405	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.729|2.729	-0.264827|-0.264827	0.05754|0.05754	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.30714|.	1.52;1.52;1.52|.	5.05|5.05	-0.0734|-0.0734	0.13735|0.13735	.|.	0.447731|.	0.25089|.	N|.	0.033237|.	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.01705|0.01705	-0.755|-0.755	0.30306|0.30306	N|N	0.789017|0.789017	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.06405|.	0.002;0.002;0.001|.	T|T	0.33317|0.33317	-0.9873|-0.9873	10|5	0.28530|.	T|.	0.3|.	-1.3374|-1.3374	5.3867|5.3867	0.16222|0.16222	0.0:0.3025:0.262:0.4355|0.0:0.3025:0.262:0.4355	.|.	207;207;207|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	P|N	207;207;207;105|108	ENSP00000355500:A207P;ENSP00000355502:A207P;ENSP00000355501:A207P|.	ENSP00000355500:A207P|.	A|K	-|-	1|3	0|2	CEP170|CEP170	241428997|241428997	0.132000|0.132000	0.22450|0.22450	0.068000|0.068000	0.19968|0.19968	0.200000|0.200000	0.23975|0.23975	0.011000|0.011000	0.13264|0.13264	-0.006000|-0.006000	0.14370|0.14370	-0.391000|-0.391000	0.06502|0.06502	GCT|AAG		0.403	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
KIF26B	55083	broad.mit.edu	37	1	245530624	245530624	+	Silent	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:245530624C>A	ENST00000407071.2	+	3	1394	c.954C>A	c.(952-954)acC>acA	p.T318T	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	318					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.T318T(1)|p.T118T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGATGGCACCTGGTCCCTGT	0.597																																					p.T318T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C954A	1						.						21.0	27.0	25.0					1																	245530624		2120	4230	6350	243597247	SO:0001819	synonymous_variant	55083	exon3			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.954C>A	1.37:g.245530624C>A			243597247	NM_018012	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	CCDS44342.1																																																																																				0.597	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
KIF26B	55083	broad.mit.edu	37	1	245847548	245847548	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:245847548G>A	ENST00000407071.2	+	11	2712	c.2272G>A	c.(2272-2274)Gcc>Acc	p.A758T	KIF26B_ENST00000366518.4_Missense_Mutation_p.A377T	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	758	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A758T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGCAAGCTCGCCATGTTGCT	0.612																																					p.A758T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2272A	1						.						67.0	74.0	71.0					1																	245847548		2085	4195	6280	243914171	SO:0001583	missense	55083	exon11			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2272G>A	1.37:g.245847548G>A	ENSP00000385545:p.Ala758Thr		243914171	NM_018012	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914672	0.17907	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.03580	3.88;3.88	5.74	2.17	0.27698	Kinesin, motor domain (4);	.	.	.	.	T	0.00524	0.0017	N	0.00004	-3.37	0.27352	N	0.956227	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.42241	-0.9463	9	0.02654	T	1	.	9.4028	0.38442	0.8001:0.0:0.1999:0.0	.	377;758	B7WPD9;Q2KJY2	.;KI26B_HUMAN	T	758;377;374	ENSP00000385545:A758T;ENSP00000355475:A377T	ENSP00000355475:A377T	A	+	1	0	KIF26B	243914171	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.195000	0.72088	0.113000	0.18004	-0.793000	0.03317	GCC		0.612	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
OR2L13	284521	broad.mit.edu	37	1	248263047	248263047	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:248263047G>A	ENST00000358120.2	+	2	515	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	OR2L13_ENST00000366478.2_Missense_Mutation_p.A124T			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A124T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCGTTATTTGGCCATCTGCCA	0.502																																					p.A124T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G370A	1						.						212.0	201.0	205.0					1																	248263047		2203	4300	6503	246329670	SO:0001583	missense	284521	exon3			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.370G>A	1.37:g.248263047G>A	ENSP00000350836:p.Ala124Thr		246329670	NM_175911	Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405363	0.62288	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00912	5.55;5.55	4.13	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000377	T	0.05410	0.0143	H	0.94582	3.555	0.32534	N	0.534599	D	0.53745	0.962	P	0.49597	0.616	T	0.08868	-1.0701	10	0.87932	D	0	.	16.1615	0.81721	0.0:0.0:1.0:0.0	.	124	Q8N349	OR2LD_HUMAN	T	124	ENSP00000355434:A124T;ENSP00000350836:A124T	ENSP00000350836:A124T	A	+	1	0	OR2L13	246329670	1.000000	0.71417	0.921000	0.36526	0.324000	0.28378	4.405000	0.59741	2.091000	0.63221	0.650000	0.86243	GCC		0.502	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	
MEGF6	1953	broad.mit.edu	37	1	3519090	3519090	+	Missense_Mutation	SNP	G	G	A	rs373558942		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:3519090G>A	ENST00000356575.4	-	2	432	c.206C>T	c.(205-207)aCg>aTg	p.T69M		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	69	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T69M(1)		cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CACCGGCACCGTGTGGCTTAA	0.682																																					p.T69M	Ovarian(73;978 3658)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C206T	1						.	G	MET/THR	0,4256		0,0,2128	22.0	29.0	27.0		206	-8.9	0.0	1		27	2,8438		0,2,4218	no	missense	MEGF6	NM_001409.3	81	0,2,6346	AA,AG,GG		0.0237,0.0,0.0158	benign	69/1542	3519090	2,12694	2128	4220	6348	3508950	SO:0001583	missense	1953	exon2			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.206C>T	1.37:g.3519090G>A	ENSP00000348982:p.Thr69Met		3508950	NM_001409	Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	G	3.032	-0.199504	0.06219	0.0	2.37E-4	ENSG00000162591	ENST00000356575	D	0.84730	-1.89	4.44	-8.88	0.00789	EMI domain (1);	0.603848	0.13551	N	0.379512	T	0.67373	0.2886	N	0.12569	0.235	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.40079	-0.9582	10	0.31617	T	0.26	4.4674	15.3134	0.74053	0.8531:0.0:0.1469:0.0	.	69	O75095	MEGF6_HUMAN	M	69	ENSP00000348982:T69M	ENSP00000348982:T69M	T	-	2	0	MEGF6	3508950	0.070000	0.21116	0.000000	0.03702	0.062000	0.15995	1.588000	0.36633	-2.156000	0.00790	-1.907000	0.00523	ACG		0.682	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409	
CEP104	9731	broad.mit.edu	37	1	3753195	3753195	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:3753195G>A	ENST00000378230.3	-	10	1505	c.1181C>T	c.(1180-1182)gCa>gTa	p.A394V	CEP104_ENST00000460038.1_Intron	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	394						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.A394V(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CTCCACCACTGCCTCCCCATA	0.567																																					p.A394V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1181T	1						.						96.0	87.0	90.0					1																	3753195		2203	4300	6503	3743055	SO:0001583	missense	9731	exon10			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1181C>T	1.37:g.3753195G>A	ENSP00000367476:p.Ala394Val		3743055	NM_014704	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.060007	0.36373	.	.	ENSG00000116198	ENST00000378230;ENST00000443466	T;T	0.48836	1.44;0.8	5.68	2.79	0.32731	.	0.456739	0.23265	N	0.050089	T	0.32194	0.0821	L	0.28192	0.835	0.38919	D	0.957699	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.10965	-1.0607	10	0.28530	T	0.3	.	10.7231	0.46052	0.2099:0.0:0.7901:0.0	.	394;394	O60308-3;O60308	.;CE104_HUMAN	V	394;88	ENSP00000367476:A394V;ENSP00000411927:A88V	ENSP00000367476:A394V	A	-	2	0	CEP104	3743055	0.000000	0.05858	0.012000	0.15200	0.025000	0.11179	0.270000	0.18607	0.758000	0.33059	0.650000	0.86243	GCA		0.567	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	
CHD5	26038	broad.mit.edu	37	1	6184050	6184050	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:6184050C>T	ENST00000262450.3	-	31	4756	c.4657G>A	c.(4657-4659)Gcc>Acc	p.A1553T	CHD5_ENST00000378021.1_Missense_Mutation_p.A410T	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.A1553T(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCAGGGCTGGCGGGCACTGGT	0.682																																					p.A1553T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4657A	1						.						17.0	22.0	20.0					1																	6184050		2203	4299	6502	6106637	SO:0001583	missense	26038	exon31			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4657G>A	1.37:g.6184050C>T	ENSP00000262450:p.Ala1553Thr		6106637	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	13.78	2.339016	0.41398	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.90788	-2.73;2.22	4.63	3.72	0.42706	.	0.077310	0.51477	D	0.000094	T	0.79263	0.4416	N	0.24115	0.695	0.48185	D	0.999602	B;P	0.40083	0.342;0.702	B;B	0.29663	0.045;0.105	T	0.77319	-0.2632	10	0.07813	T	0.8	-23.7896	14.4564	0.67418	0.1485:0.8515:0.0:0.0	.	1553;410	Q8TDI0;Q5TG85	CHD5_HUMAN;.	T	1553;1069;410;961;961;410	ENSP00000262450:A1553T;ENSP00000367260:A410T	ENSP00000262450:A1553T	A	-	1	0	CHD5	6106637	0.396000	0.25262	0.791000	0.31998	0.684000	0.39900	1.443000	0.35057	1.064000	0.40671	-0.268000	0.10319	GCC		0.682	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
CHD5	26038	broad.mit.edu	37	1	6202309	6202309	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:6202309G>A	ENST00000262450.3	-	15	2414	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.A772V(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GAAGTCGGGCGCCCACATCTC	0.607																																					p.A772V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2315T	1						.						98.0	95.0	96.0					1																	6202309		2203	4300	6503	6124896	SO:0001583	missense	26038	exon15			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2315C>T	1.37:g.6202309G>A	ENSP00000262450:p.Ala772Val		6124896	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086309	0.94100	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.93604	-3.25	4.07	4.07	0.47477	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.95623	0.8577	L	0.58302	1.8	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.95855	0.8878	10	0.54805	T	0.06	-21.7301	16.6218	0.84932	0.0:0.0:1.0:0.0	.	772	Q8TDI0	CHD5_HUMAN	V	772;288;180;180	ENSP00000262450:A772V	ENSP00000262450:A772V	A	-	2	0	CHD5	6124896	1.000000	0.71417	0.912000	0.35992	0.986000	0.74619	9.702000	0.98712	1.977000	0.57605	0.561000	0.74099	GCG		0.607	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
PHF13	148479	broad.mit.edu	37	1	6679925	6679925	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:6679925C>T	ENST00000377648.4	+	3	586	c.204C>T	c.(202-204)gaC>gaT	p.D68D	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	68					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.D68D(1)		endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		TTGACAGCGACGGCTGGGACG	0.567																																					p.D68D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C204T	1						.						58.0	61.0	60.0					1																	6679925		2203	4299	6502	6602512	SO:0001819	synonymous_variant	148479	exon3			AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.204C>T	1.37:g.6679925C>T			6602512	NM_153812	B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Silent	SNP	ENST00000377648.4	37	CCDS85.1																																																																																				0.567	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812	
DNAJC11	55735	broad.mit.edu	37	1	6700010	6700010	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:6700010G>A	ENST00000377577.5	-	11	1328	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	DNAJC11_ENST00000377573.5_Missense_Mutation_p.A312V|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Missense_Mutation_p.A364V|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	402						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.A402V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		ACGGTGCATGGCAAAGTAGAC	0.537																																					p.A402V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1205T	1						.						98.0	88.0	91.0					1																	6700010		2203	4300	6503	6622597	SO:0001583	missense	55735	exon11			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1205C>T	1.37:g.6700010G>A	ENSP00000366800:p.Ala402Val		6622597	NM_018198	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	CCDS87.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.856018	0.32791	.	.	ENSG00000007923	ENST00000377577;ENST00000542246;ENST00000377573	T;T;T	0.26067	2.37;2.13;1.76	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.21468	0.0517	L	0.39245	1.2	0.80722	D	1	B;B	0.29188	0.236;0.014	B;B	0.24848	0.056;0.026	T	0.05716	-1.0868	10	0.05959	T	0.93	-28.4508	19.4017	0.94632	0.0:0.0:1.0:0.0	.	312;402	B4DGD5;Q9NVH1	.;DJC11_HUMAN	V	402;364;312	ENSP00000366800:A402V;ENSP00000444020:A364V;ENSP00000366796:A312V	ENSP00000366796:A312V	A	-	2	0	DNAJC11	6622597	1.000000	0.71417	0.354000	0.25760	0.991000	0.79684	9.158000	0.94723	2.835000	0.97688	0.591000	0.81541	GCC		0.537	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198	
DNAJC11	55735	broad.mit.edu	37	1	6706019	6706020	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:6706019_6706020delCA	ENST00000377577.5	-	8	846_847	c.723_724delTG	c.(721-726)tgtgctfs	p.A242fs	DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.A152fs|DNAJC11_ENST00000465508.1_5'Flank|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.A204fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.A204fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.A242fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	242						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.A242fs*41(1)|p.A272fs*41(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		AACTGCAGAGCACAGTTTGTTG	0.545																																					p.241_242del												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.723_724del	1						.																																			6628607	SO:0001589	frameshift_variant	55735	exon8			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.723_724delTG	1.37:g.6706021_6706022delCA	ENSP00000366800:p.Ala242fs		6628606	NM_018198	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	CCDS87.1																																																																																				0.545	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198	
SLC2A7	155184	broad.mit.edu	37	1	9063541	9063541	+	Missense_Mutation	SNP	C	C	T	rs200269396	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:9063541C>T	ENST00000400906.1	-	12	1356	c.1357G>A	c.(1357-1359)Gga>Aga	p.G453R		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	453					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.G453R(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGGCAGATTCCGGCAAAGATG	0.498													C|||	5	0.000998403	0.0	0.0	5008	,	,		22829	0.0		0.0	False		,,,				2504	0.0051				p.G453R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1357A	1						.	C	ARG/GLY	0,4406		0,0,2203	83.0	75.0	78.0		1357	4.6	0.2	1		78	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC2A7	NM_207420.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	453/513	9063541	1,13005	2203	4300	6503	8986128	SO:0001583	missense	155184	exon12			AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.1357G>A	1.37:g.9063541C>T	ENSP00000383698:p.Gly453Arg		8986128	NM_207420	A2A333	Missense_Mutation	SNP	ENST00000400906.1	37	CCDS98.2	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471525	0.43942	0.0	1.16E-4	ENSG00000197241	ENST00000400906	T	0.60920	0.15	4.64	4.64	0.57946	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.403647	0.24107	N	0.041491	T	0.74053	0.3666	M	0.82132	2.575	0.09310	N	1	D	0.64830	0.994	P	0.59357	0.856	T	0.68765	-0.5322	10	0.62326	D	0.03	.	16.2406	0.82405	0.0:1.0:0.0:0.0	.	453	Q6PXP3	GTR7_HUMAN	R	453	ENSP00000383698:G453R	ENSP00000383698:G453R	G	-	1	0	SLC2A7	8986128	0.000000	0.05858	0.204000	0.23530	0.845000	0.48019	0.870000	0.28010	2.403000	0.81681	0.561000	0.74099	GGA		0.498	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420	
PIK3CD	5293	broad.mit.edu	37	1	9770571	9770571	+	Missense_Mutation	SNP	G	G	A	rs143116020	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:9770571G>A	ENST00000377346.4	+	3	253	c.58G>A	c.(58-60)Gtt>Att	p.V20I	PIK3CD_ENST00000361110.2_Missense_Mutation_p.V20I|PIK3CD_ENST00000536656.1_Missense_Mutation_p.V20I	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	20	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.V20I(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GAATCAGAGCGTTGTGGTTGA	0.552																																					p.V20I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G58A	1						.	G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	185.0	162.0	170.0		58	4.5	0.8	1	dbSNP_134	170	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PIK3CD	NM_005026.3	29	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign	20/1045	9770571	4,13002	2203	4300	6503	9693158	SO:0001583	missense	5293	exon3				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.58G>A	1.37:g.9770571G>A	ENSP00000366563:p.Val20Ile		9693158	NM_005026	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	8.754	0.922006	0.17982	4.54E-4	2.33E-4	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.67345	-0.26;-0.23;-0.26	5.42	4.51	0.55191	.	0.423880	0.26366	N	0.024797	T	0.39253	0.1071	N	0.08118	0	0.80722	D	1	B;B;B	0.22983	0.043;0.078;0.043	B;B;B	0.18263	0.021;0.014;0.01	T	0.21655	-1.0239	10	0.08837	T	0.75	-38.5491	7.8426	0.29408	0.2228:0.0:0.7772:0.0	.	20;20;20	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	I	20	ENSP00000446444:V20I;ENSP00000366563:V20I;ENSP00000354410:V20I	ENSP00000353766:V20I	V	+	1	0	PIK3CD	9693158	1.000000	0.71417	0.798000	0.32154	0.923000	0.55619	4.700000	0.61803	1.424000	0.47217	0.563000	0.77884	GTT		0.552	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026	
CLSTN1	22883	broad.mit.edu	37	1	9795567	9795567	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:9795567G>T	ENST00000377298.4	-	13	2633	c.1841C>A	c.(1840-1842)cCc>cAc	p.P614H	CLSTN1_ENST00000361311.4_Missense_Mutation_p.P604H|CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000377288.3_Missense_Mutation_p.P595H	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	614					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)	p.P614H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCCGGGCGTGGGGAACTGCCG	0.517																																					p.P604H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1811A	1						.						180.0	178.0	179.0					1																	9795567		2203	4300	6503	9718154	SO:0001583	missense	22883	exon12			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1841C>A	1.37:g.9795567G>T	ENSP00000366513:p.Pro614His		9718154	NM_014944	A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095721	0.94197	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	M	0.84585	2.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.67110	-0.5753	10	0.87932	D	0	-37.6211	20.2985	0.98592	0.0:0.0:1.0:0.0	.	595;604;614	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	H	614;604;415;595;595	ENSP00000366513:P614H;ENSP00000354997:P604H;ENSP00000401934:P415H;ENSP00000366502:P595H	ENSP00000354997:P604H	P	-	2	0	CLSTN1	9718154	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CCC		0.517	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1		
UBR4	23352	broad.mit.edu	37	1	19536655	19536655	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:19536655delC	ENST00000375254.3	-	1	115	c.88delG	c.(88-90)gagfs	p.E30fs	UBR4_ENST00000375226.2_Frame_Shift_Del_p.E30fs|UBR4_ENST00000375267.2_Frame_Shift_Del_p.E30fs|UBR4_ENST00000375217.2_Frame_Shift_Del_p.E30fs|RP1-43E13.2_ENST00000437898.1_RNA	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	30					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E30fs*17(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACAGCCACCTCCCAGCCCGGG	0.726																																					p.E30fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.88delG	1						.						7.0	8.0	8.0					1																	19536655		2152	4230	6382	19409242	SO:0001589	frameshift_variant	23352	exon1			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.88delG	1.37:g.19536655delC	ENSP00000364403:p.Glu30fs		19409242	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Frame_Shift_Del	DEL	ENST00000375254.3	37	CCDS189.1																																																																																				0.726	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
TCEB3	6924	broad.mit.edu	37	1	24078022	24078024	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:24078022_24078024delGAA	ENST00000418390.2	+	4	1276_1278	c.1005_1007delGAA	c.(1003-1008)ctgaag>ctg	p.K338del	TCEB3_ENST00000609199.1_In_Frame_Del_p.K312del	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	338					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.K312delK(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GCAGCAGCCTGAAGAAGAAGTGT	0.527											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.335_336del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1005_1007del	1						.																																			23950611	SO:0001651	inframe_deletion	6924	exon4			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1005_1007delGAA	1.37:g.24078028_24078030delGAA	ENSP00000395574:p.Lys338del	768	23950609	NM_003198	B2R7Q8|Q8IXH1	In_Frame_Del	DEL	ENST00000418390.2	37	CCDS239.2																																																																																				0.527	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198	
UBXN11	91544	broad.mit.edu	37	1	26612372	26612372	+	Missense_Mutation	SNP	C	C	T	rs372332532		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:26612372C>T	ENST00000374222.1	-	10	1180	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	UBXN11_ENST00000436301.2_Missense_Mutation_p.R164Q|UBXN11_ENST00000374217.2_Missense_Mutation_p.R206Q|UBXN11_ENST00000314675.7_Missense_Mutation_p.R119Q|UBXN11_ENST00000357089.4_Missense_Mutation_p.R206Q|UBXN11_ENST00000374223.1_5'UTR|UBXN11_ENST00000535108.1_Missense_Mutation_p.R81Q|UBXN11_ENST00000374221.3_Missense_Mutation_p.R239Q			Q5T124	UBX11_HUMAN	UBX domain protein 11	239	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R239Q(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						GATGCCATTCCGGTAGAGCTT	0.632											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R119Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G356A	1						.	C	GLN/ARG,GLN/ARG,GLN/ARG	1,4111		0,1,2055	60.0	67.0	65.0		716,617,356	2.0	1.0	1		65	0,8370		0,0,4185	no	missense,missense,missense	UBXN11	NM_183008.2,NM_145345.2,NM_001077262.1	43,43,43	0,1,6240	TT,TC,CC		0.0,0.0243,0.0080	benign,benign,benign	239/521,206/488,119/401	26612372	1,12481	2056	4185	6241	26484959	SO:0001583	missense	91544	exon5			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.716G>A	1.37:g.26612372C>T	ENSP00000363339:p.Arg239Gln	788	26484959	NM_001077262	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127636	0.56721	2.43E-4	0.0	ENSG00000158062	ENST00000314675;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217;ENST00000535108;ENST00000436301;ENST00000374215;ENST00000452980	T;T;T;T;T;T;T;T;T	0.44482	2.27;2.53;2.54;2.54;2.53;0.94;0.96;0.96;0.92	5.51	2.03	0.26663	SEP domain (3);	0.365309	0.26119	N	0.026238	T	0.25791	0.0628	L	0.39020	1.185	0.25873	N	0.983687	B;B;B;B;B;B	0.33000	0.318;0.393;0.179;0.196;0.196;0.393	B;B;B;B;B;B	0.27608	0.081;0.071;0.024;0.011;0.011;0.05	T	0.10177	-1.0641	10	0.37606	T	0.19	-22.7099	5.6016	0.17357	0.1458:0.5677:0.0:0.2865	.	81;164;206;201;119;239	B7Z1T8;B7Z3N8;Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;.;.;UBX11_HUMAN	Q	119;206;239;239;206;81;164;201;206	ENSP00000324721:R119Q;ENSP00000349601:R206Q;ENSP00000363338:R239Q;ENSP00000363339:R239Q;ENSP00000363334:R206Q;ENSP00000446034:R81Q;ENSP00000393858:R164Q;ENSP00000363332:R201Q;ENSP00000410357:R206Q	ENSP00000324721:R119Q	R	-	2	0	UBXN11	26484959	0.999000	0.42202	1.000000	0.80357	0.917000	0.54804	1.207000	0.32333	0.647000	0.30713	0.591000	0.81541	CGG		0.632	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345	
AHDC1	27245	broad.mit.edu	37	1	27876869	27876869	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:27876869delT	ENST00000247087.5	-	5	2354	c.1758delA	c.(1756-1758)aaafs	p.K586fs	AHDC1_ENST00000374011.2_Frame_Shift_Del_p.K586fs			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	586							DNA binding (GO:0003677)	p.K586fs*37(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCCGCCGTCGTTTTTTTACCT	0.647																																					p.K586fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1758delA	1						.						64.0	62.0	63.0					1																	27876869		2203	4300	6503	27749456	SO:0001589	frameshift_variant	27245	exon6			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1758delA	1.37:g.27876869delT	ENSP00000247087:p.Lys586fs		27749456	NM_001029882	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Frame_Shift_Del	DEL	ENST00000247087.5	37	CCDS30652.1																																																																																				0.647	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3		
SESN2	83667	broad.mit.edu	37	1	28605651	28605651	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:28605651C>T	ENST00000253063.3	+	9	1576	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	419					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R419W(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCCTGGAGCGGAACCTCAA	0.512																																					p.R419W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1255T	1						.						94.0	88.0	90.0					1																	28605651		2203	4300	6503	28478238	SO:0001583	missense	83667	exon9			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1255C>T	1.37:g.28605651C>T	ENSP00000253063:p.Arg419Trp		28478238	NM_031459	Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	CCDS321.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357993	0.82243	.	.	ENSG00000130766	ENST00000253063	T	0.35236	1.32	4.87	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65755	-0.6091	10	0.87932	D	0	-32.4088	11.7871	0.52049	0.2975:0.7025:0.0:0.0	.	419	P58004	SESN2_HUMAN	W	419	ENSP00000253063:R419W	ENSP00000253063:R419W	R	+	1	2	SESN2	28478238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.065000	0.41442	2.533000	0.85409	0.561000	0.74099	CGG		0.512	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1		
PTPRU	10076	broad.mit.edu	37	1	29609216	29609216	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:29609216C>T	ENST00000345512.3	+	12	2026	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	PTPRU_ENST00000323874.8_Missense_Mutation_p.R633W|PTPRU_ENST00000373779.3_Missense_Mutation_p.R633W|PTPRU_ENST00000428026.2_Missense_Mutation_p.R633W|PTPRU_ENST00000356870.3_Missense_Mutation_p.R633W|PTPRU_ENST00000460170.2_Missense_Mutation_p.R633W|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	633	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R633W(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGAGGAGGAGCGGGCGCGGAG	0.657																																					p.R633W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1897T	1						.						46.0	41.0	43.0					1																	29609216		2202	4299	6501	29481803	SO:0001583	missense	10076	exon12			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1897C>T	1.37:g.29609216C>T	ENSP00000334941:p.Arg633Trp		29481803	NM_005704	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106433	0.77096	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.35048	1.38;1.39;1.39;1.39;1.33;1.39	5.52	3.49	0.39957	.	0.562203	0.17418	N	0.174932	T	0.51483	0.1677	M	0.68317	2.08	0.34708	D	0.727426	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	P;P;P;P;P	0.59221	0.854;0.854;0.854;0.719;0.719	T	0.64478	-0.6398	9	.	.	.	.	12.356	0.55176	0.4321:0.5679:0.0:0.0	.	633;633;633;633;633	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	W	633	ENSP00000334941:R633W;ENSP00000362884:R633W;ENSP00000349333:R633W;ENSP00000314987:R633W;ENSP00000392332:R633W;ENSP00000432906:R633W	.	R	+	1	2	PTPRU	29481803	0.952000	0.32445	0.997000	0.53966	0.701000	0.40568	0.911000	0.28584	1.291000	0.44653	0.549000	0.68633	CGG		0.657	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		
MATN1	4146	broad.mit.edu	37	1	31188935	31188935	+	Missense_Mutation	SNP	C	C	T	rs143893133	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:31188935C>T	ENST00000373765.4	-	5	1063	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	MATN1-AS1_ENST00000414763.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	343	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.R343Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GGACATATTCCGCACAGCCGC	0.592													C|||	2	0.000399361	0.0	0.0029	5008	,	,		20400	0.0		0.0	False		,,,				2504	0.0				p.R343Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1028A	1						.	C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	107.0	116.0	113.0		1028	3.2	1.0	1	dbSNP_134	113	11,8589	8.4+/-32.0	0,11,4289	yes	missense	MATN1	NM_002379.3	43	0,13,6490	TT,TC,CC		0.1279,0.0454,0.1	possibly-damaging	343/497	31188935	13,12993	2203	4300	6503	30961522	SO:0001583	missense	4146	exon5			M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.1028G>A	1.37:g.31188935C>T	ENSP00000362870:p.Arg343Gln		30961522	NM_002379	B2R7E3|Q5TBB9	Missense_Mutation	SNP	ENST00000373765.4	37	CCDS336.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871701	0.51695	4.54E-4	0.001279	ENSG00000162510	ENST00000373765	T	0.78595	-1.19	5.34	3.23	0.37069	von Willebrand factor, type A (3);	.	.	.	.	T	0.60521	0.2275	L	0.28192	0.835	0.33648	D	0.608127	P;D	0.55385	0.95;0.971	B;B	0.41571	0.36;0.36	T	0.63829	-0.6548	9	0.21540	T	0.41	-22.2694	6.1139	0.20116	0.0:0.6079:0.0:0.3921	.	327;343	A3KMG0;P21941	.;MATN1_HUMAN	Q	343	ENSP00000362870:R343Q	ENSP00000362870:R343Q	R	-	2	0	MATN1	30961522	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.318000	0.43779	1.254000	0.44035	0.650000	0.86243	CGG		0.592	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379	
SDC3	9672	broad.mit.edu	37	1	31349842	31349842	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:31349842delG	ENST00000339394.6	-	3	601	c.427delC	c.(427-429)ctgfs	p.L143fs	SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000336798.7_Frame_Shift_Del_p.L85fs	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	143	Ser/Thr-rich (mucin-like).				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L143fs*3(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GTCACCACCAGGGGGCTGGTG	0.647																																					p.L143fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.427delC	1						.						26.0	30.0	29.0					1																	31349842		2201	4299	6500	31122429	SO:0001589	frameshift_variant	9672	exon3			AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.427delC	1.37:g.31349842delG	ENSP00000344468:p.Leu143fs		31122429	NM_014654	Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Frame_Shift_Del	DEL	ENST00000339394.6	37	CCDS30661.1																																																																																				0.647	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654	
PUM1	9698	broad.mit.edu	37	1	31426613	31426613	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:31426613G>A	ENST00000257075.5	-	15	2632	c.2539C>T	c.(2539-2541)Cgg>Tgg	p.R847W	PUM1_ENST00000423018.2_Missense_Mutation_p.R703W|PUM1_ENST00000424085.2_Missense_Mutation_p.R605W|PUM1_ENST00000373741.4_Missense_Mutation_p.R883W|PUM1_ENST00000426105.2_Missense_Mutation_p.R847W|PUM1_ENST00000373742.2_Missense_Mutation_p.R788W|PUM1_ENST00000440538.2_Missense_Mutation_p.R821W|PUM1_ENST00000373747.3_Missense_Mutation_p.R848W	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	847	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.R847W(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCAATCTCCCGCAGTTGTAAA	0.463																																					p.R847W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2539T	1						.						151.0	164.0	160.0					1																	31426613		2203	4300	6503	31199200	SO:0001583	missense	9698	exon15			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2539C>T	1.37:g.31426613G>A	ENSP00000257075:p.Arg847Trp		31199200	NM_001020658	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.943632|3.943632	0.73672|0.73672	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000525843;ENST00000498419|ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742	.|T;T;T;T;T;T;T;T	.|0.15603	.|2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44244|0.44244	0.1284|0.1284	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.75020	.|0.967;0.93;0.967;0.985;0.967;0.967;0.967;0.967	T|T	0.38950|0.38950	-0.9637|-0.9637	5|10	.|0.87932	.|D	.|0	-12.0396|-12.0396	14.438|14.438	0.67296|0.67296	0.0:0.0:0.8159:0.1841|0.0:0.0:0.8159:0.1841	.|.	.|788;703;883;821;847;847;848;847	.|B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.|.;.;.;.;PUM1_HUMAN;.;.;.	V|W	785;558|605;847;848;585;847;821;883;703;788	.|ENSP00000400141:R605W;ENSP00000257075:R847W;ENSP00000362852:R848W;ENSP00000391723:R847W;ENSP00000401777:R821W;ENSP00000362846:R883W;ENSP00000399440:R703W;ENSP00000362847:R788W	.|ENSP00000257075:R847W	A|R	-|-	2|1	0|2	PUM1|PUM1	31199200|31199200	0.952000|0.952000	0.32445|0.32445	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.432000|1.432000	0.34936|0.34936	2.738000|2.738000	0.93877|0.93877	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.463	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1		
KHDRBS1	10657	broad.mit.edu	37	1	32508135	32508135	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:32508135C>T	ENST00000327300.7	+	9	1409	c.1242C>T	c.(1240-1242)gaC>gaT	p.D414D	KHDRBS1_ENST00000492989.1_Silent_p.D375D|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1									p.D414D(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CAGGCCAGGACGACTGGAATG	0.488																																					p.D414D	Ovarian(173;401 1982 12359 31110 42403)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1242T	1						.						57.0	52.0	54.0					1																	32508135		2203	4300	6503	32280722	SO:0001819	synonymous_variant	10657	exon9			U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.1242C>T	1.37:g.32508135C>T			32280722	NM_006559		Silent	SNP	ENST00000327300.7	37	CCDS350.1																																																																																				0.488	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559	
CSF3R	1441	broad.mit.edu	37	1	36935421	36935421	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:36935421delG	ENST00000373106.1	-	11	1853	c.1306delC	c.(1306-1308)catfs	p.H436fs	CSF3R_ENST00000361632.4_Frame_Shift_Del_p.H436fs|CSF3R_ENST00000418048.2_Frame_Shift_Del_p.H436fs|CSF3R_ENST00000338937.5_Frame_Shift_Del_p.H436fs|CSF3R_ENST00000331941.5_Frame_Shift_Del_p.H436fs|CSF3R_ENST00000373103.1_Frame_Shift_Del_p.H436fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373104.1_Frame_Shift_Del_p.H436fs|CSF3R_ENST00000440588.2_Frame_Shift_Del_p.H436fs	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	436	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.H436fs*12(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCCATGGCATGGAGTCTGGTC	0.612																																					p.H436fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1306delC	1						.						24.0	26.0	26.0					1																	36935421		2203	4298	6501	36708008	SO:0001589	frameshift_variant	1441	exon11			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1306delC	1.37:g.36935421delG	ENSP00000362198:p.His436fs		36708008	NM_172313		Frame_Shift_Del	DEL	ENST00000373106.1	37	CCDS413.1																																																																																				0.612	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039	
GRIK3	2899	broad.mit.edu	37	1	37346245	37346245	+	Silent	SNP	G	G	A	rs377438243		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:37346245G>A	ENST00000373091.3	-	3	556	c.540C>T	c.(538-540)gaC>gaT	p.D180D	GRIK3_ENST00000373093.4_Silent_p.D180D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	180					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.D180D(2)		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)				CTGTACTGTCGTCATAGACCA	0.612																																					p.D180D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C540T	1						.						259.0	247.0	251.0					1																	37346245		2203	4300	6503	37118832	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.540C>T	1.37:g.37346245G>A			37118832	NM_000831	A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	CCDS416.1																																																																																				0.612	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
MACF1	23499	broad.mit.edu	37	1	39852998	39852998	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:39852998G>A	ENST00000372915.3	+	57	14586	c.14499G>A	c.(14497-14499)cgG>cgA	p.R4833R	MACF1_ENST00000317713.7_Silent_p.R2766R|MACF1_ENST00000539005.1_Silent_p.R2745R|MACF1_ENST00000545844.1_Silent_p.R2766R|MACF1_ENST00000564288.1_Silent_p.R4828R|MACF1_ENST00000567887.1_Silent_p.R4865R|MACF1_ENST00000289893.4_Silent_p.R3268R|MACF1_ENST00000361689.2_Silent_p.R2766R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4833					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.R2766R(1)|p.R3268R(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)			AATTGGAGCGGCTACAGTCTC	0.448																																					p.R2766R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G8298A	1						.						125.0	142.0	136.0					1																	39852998		2203	4300	6503	39625585	SO:0001819	synonymous_variant	23499	exon54			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.14499G>A	1.37:g.39852998G>A			39625585	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	G	0.005	-2.192980	0.00302	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.06	-0.678	0.11353	.	.	.	.	.	T	0.35128	0.0921	.	.	.	0.20074	N	0.999938	.	.	.	.	.	.	T	0.32587	-0.9901	4	.	.	.	.	10.6296	0.45527	0.4051:0.0:0.5949:0.0	.	.	.	.	T	1879	.	.	A	+	1	0	MACF1	39625585	0.000000	0.05858	0.008000	0.14137	0.101000	0.19017	-0.038000	0.12144	-0.390000	0.07774	-0.150000	0.13652	GCT		0.448	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	39951334	39951334	+	Silent	SNP	C	C	T	rs377022334		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:39951334C>T	ENST00000372915.3	+	97	22122	c.22035C>T	c.(22033-22035)tcC>tcT	p.S7345S	MACF1_ENST00000317713.7_Silent_p.S5387S|MACF1_ENST00000539005.1_Silent_p.S5257S|MACF1_ENST00000545844.1_Silent_p.S5387S|MACF1_ENST00000564288.1_Silent_p.S7512S|MACF1_ENST00000567887.1_Silent_p.S7549S|MACF1_ENST00000289893.4_Silent_p.S5895S|MACF1_ENST00000361689.2_Silent_p.S5387S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7345	C-terminal tail. {ECO:0000250}.|Ser-rich.				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.S5387S(1)|p.S5895S(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)			CTGCTTGTTCCGACACTTCAG	0.577																																					p.S5387S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C16161T	1						.	C	,	0,4406		0,0,2203	77.0	83.0	81.0		16161,17685	-3.8	1.0	1		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MACF1	NM_012090.4,NM_033044.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	5387/5431,5895/5939	39951334	1,13005	2203	4300	6503	39723921	SO:0001819	synonymous_variant	23499	exon95			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.22035C>T	1.37:g.39951334C>T			39723921	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.625|2.625	-0.287770|-0.287770	0.05605|0.05605	0.0|0.0	1.16E-4|1.16E-4	ENSG00000127603|ENSG00000127603	ENST00000360115;ENST00000442046|ENST00000372925;ENST00000446276	.|.	.|.	.|.	5.58|5.58	-3.85|-3.85	0.04243|0.04243	.|.	.|.	.|.	.|.	.|.	T|.	0.37705|.	0.1013|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34527|.	-0.9825|.	4|.	.|.	.|.	.|.	.|.	1.1651|1.1651	0.01813|0.01813	0.2259:0.351:0.1631:0.26|0.2259:0.351:0.1631:0.26	.|.	.|.	.|.	.|.	L|X	500;325|4391;412	.|.	.|.	P|R	+|+	2|1	0|2	MACF1|MACF1	39723921|39723921	0.007000|0.007000	0.16637|0.16637	0.971000|0.971000	0.41717|0.41717	0.950000|0.950000	0.60333|0.60333	-0.928000|-0.928000	0.03980|0.03980	-0.770000|-0.770000	0.04614|0.04614	-2.276000|-2.276000	0.00273|0.00273	CCG|CGA		0.577	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
CTPS1	1503	broad.mit.edu	37	1	41475218	41475218	+	Missense_Mutation	SNP	C	C	T	rs552737439		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:41475218C>T	ENST00000372621.4	+	17	2156	c.1648C>T	c.(1648-1650)Cgg>Tgg	p.R550W	CTPS1_ENST00000372616.1_Missense_Mutation_p.R550W|CTPS1_ENST00000541520.1_Missense_Mutation_p.R319W	NM_001905.2	NP_001896.2			CTP synthase 1									p.R550W(1)		endometrium(3)|lung(10)	13						CTCTGTGGGGCGGCTCTCACA	0.542													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17542	0.0		0.0	False		,,,				2504	0.0				p.R550W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1648T	1						.						116.0	115.0	116.0					1																	41475218		2203	4300	6503	41247805	SO:0001583	missense	1503	exon17			BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1648C>T	1.37:g.41475218C>T	ENSP00000361704:p.Arg550Trp		41247805	NM_001905		Missense_Mutation	SNP	ENST00000372621.4	37	CCDS459.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038074	0.75617	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	T;T;T	0.46819	0.88;0.86;0.88	5.38	-2.76	0.05896	Glutamine amidotransferase type 1 (1);	0.159006	0.51477	D	0.000086	T	0.46073	0.1374	L	0.55990	1.75	0.51012	D	0.9999	P;D	0.62365	0.952;0.991	P;P	0.46144	0.505;0.462	T	0.59354	-0.7470	10	0.66056	D	0.02	.	17.1978	0.86898	0.34:0.66:0.0:0.0	.	319;550	B4DR64;P17812	.;PYRG1_HUMAN	W	550;319;550	ENSP00000361704:R550W;ENSP00000442646:R319W;ENSP00000361699:R550W	ENSP00000361699:R550W	R	+	1	2	CTPS	41247805	0.856000	0.29760	0.964000	0.40570	0.917000	0.54804	1.174000	0.31932	-0.394000	0.07727	0.655000	0.94253	CGG		0.542	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905	
SZT2	23334	broad.mit.edu	37	1	43893291	43893291	+	Missense_Mutation	SNP	C	C	T	rs553638915		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:43893291C>T	ENST00000562955.1	+	25	3518	c.3518C>T	c.(3517-3519)gCg>gTg	p.A1173V	SZT2_ENST00000372442.1_Missense_Mutation_p.A331V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1230					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.A331V(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACAGAGAGTGCGGATGGGCCC	0.582																																					p.A331V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C992T	1						.						84.0	88.0	87.0					1																	43893291		2203	4300	6503	43665878	SO:0001583	missense	23334	exon11			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.3518C>T	1.37:g.43893291C>T	ENSP00000457168:p.Ala1173Val		43665878	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450099	0.26074	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.26	3.33	0.38152	.	1.032190	0.07650	N	0.931731	T	0.32315	0.0825	L	0.34521	1.04	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.17745	-1.0359	9	0.34782	T	0.22	.	7.5181	0.27612	0.0:0.6416:0.2622:0.0962	.	1173	Q5T011-5	.	V	331	.	ENSP00000361519:A331V	A	+	2	0	SZT2	43665878	0.085000	0.21516	0.063000	0.19743	0.328000	0.28507	2.461000	0.45040	1.457000	0.47850	0.655000	0.94253	GCG		0.582	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
SZT2	23334	broad.mit.edu	37	1	43909277	43909277	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:43909277C>T	ENST00000562955.1	+	61	8464	c.8464C>T	c.(8464-8466)Cgc>Tgc	p.R2822C	SZT2_ENST00000372442.1_Missense_Mutation_p.R1980C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2879					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.R1980C(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCGGCGCCATCGCCCTGAGTC	0.612																																					p.R1980C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5938T	1						.						59.0	61.0	61.0					1																	43909277		2203	4300	6503	43681864	SO:0001583	missense	23334	exon47			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8464C>T	1.37:g.43909277C>T	ENSP00000457168:p.Arg2822Cys		43681864	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195023	0.58017	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.36	4.43	0.53597	.	0.256104	0.39615	N	0.001313	T	0.48822	0.1521	L	0.43152	1.355	0.34504	D	0.706374	B	0.15930	0.015	B	0.12156	0.007	T	0.57946	-0.7723	9	0.59425	D	0.04	.	10.7108	0.45982	0.0:0.8514:0.0:0.1486	.	2822	Q5T011-5	.	C	1980	.	ENSP00000361519:R1980C	R	+	1	0	SZT2	43681864	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	4.845000	0.62853	1.233000	0.43693	0.650000	0.86243	CGC		0.612	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
PTCH2	8643	broad.mit.edu	37	1	45294213	45294213	+	Missense_Mutation	SNP	C	C	T	rs113543298		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:45294213C>T	ENST00000372192.3	-	12	1685	c.1555G>A	c.(1555-1557)Gtt>Att	p.V519I	PTCH2_ENST00000447098.2_Missense_Mutation_p.V519I	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	519	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.V519I(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGGATGGGAACGAGGGCAGCC	0.642									Basal Cell Nevus syndrome																												p.V519I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1555A	1						.						89.0	67.0	75.0					1																	45294213		2202	4299	6501	45066800	SO:0001583	missense	8643	exon12	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1555G>A	1.37:g.45294213C>T	ENSP00000361266:p.Val519Ile		45066800	NM_001166292	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	6.938	0.542858	0.13250	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.95482	-3.72;-3.72	5.2	4.28	0.50868	Sterol-sensing domain (1);	0.083770	0.48286	D	0.000199	D	0.85762	0.5772	N	0.03324	-0.35	0.52501	D	0.999955	B;B	0.10296	0.0;0.003	B;B	0.12837	0.001;0.008	T	0.79957	-0.1584	10	0.02654	T	1	-22.9206	13.7667	0.62999	0.0:0.9241:0.0:0.0759	.	519;519	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	I	519	ENSP00000389703:V519I;ENSP00000361266:V519I	ENSP00000361266:V519I	V	-	1	0	PTCH2	45066800	0.985000	0.35326	0.722000	0.30670	0.887000	0.51463	2.701000	0.47094	1.181000	0.42912	0.462000	0.41574	GTT		0.642	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738	
MUTYH	4595	broad.mit.edu	37	1	45798466	45798466	+	Missense_Mutation	SNP	C	C	T	rs143353451		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:45798466C>T	ENST00000372098.3	-	7	669	c.536G>A	c.(535-537)cGt>cAt	p.R179H	MUTYH_ENST00000450313.1_Missense_Mutation_p.R182H|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.R154H|MUTYH_ENST00000372110.3_Missense_Mutation_p.R169H|MUTYH_ENST00000488731.2_Silent_p.S52S|MUTYH_ENST00000529984.1_Silent_p.S52S|MUTYH_ENST00000528332.2_Silent_p.S66S|MUTYH_ENST00000528013.2_Missense_Mutation_p.R168H|MUTYH_ENST00000372100.5_Missense_Mutation_p.R165H|MUTYH_ENST00000456914.2_Missense_Mutation_p.R154H|MUTYH_ENST00000355498.2_Missense_Mutation_p.R154H|MUTYH_ENST00000354383.6_Missense_Mutation_p.R155H|MUTYH_ENST00000448481.1_Missense_Mutation_p.R165H|MUTYH_ENST00000372115.3_Missense_Mutation_p.R168H			Q9UIF7	MUTYH_HUMAN	mutY homolog	179			R -> C (in FAP2). {ECO:0000269|PubMed:18091433}.|R -> H (in FAP2). {ECO:0000269|PubMed:15366000}.		base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)	p.R179H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCGCCGGCCACGAGAATAGTA	0.552			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																												p.R154H		yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G461A	1	GRCh37	CM042753	MUTYH	M	rs143353451	.						87.0	100.0	96.0					1																	45798466		2203	4300	6503	45571053	SO:0001583	missense	4595	exon7	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.536G>A	1.37:g.45798466C>T	ENSP00000361170:p.Arg179His		45571053	NM_001048173	D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	CCDS520.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591105	0.86851	.	.	ENSG00000132781	ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000450313;ENST00000372100;ENST00000525481;ENST00000412971;ENST00000435155;ENST00000528013	D;D;D;D;D;D;D;D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	4.99	4.99	0.66335	HhH-GPD domain (2);DNA glycosylase (2);	0.000000	0.85682	D	0.000000	D	0.97670	0.9236	H	0.99325	4.515	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.99686	1.1000	10	0.87932	D	0	-9.2585	18.6358	0.91378	0.0:1.0:0.0:0.0	.	182;169;179;168;62;155	E5KP25;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.;.;MUTYH_HUMAN;.;.;.	H	154;165;154;155;154;179;169;168;182;165;26;26;165;168	ENSP00000361176:R154H;ENSP00000409718:R165H;ENSP00000407590:R154H;ENSP00000346354:R155H;ENSP00000347685:R154H;ENSP00000361170:R179H;ENSP00000361182:R169H;ENSP00000361187:R168H;ENSP00000408176:R182H;ENSP00000361172:R165H;ENSP00000410263:R26H;ENSP00000403655:R165H;ENSP00000433130:R168H	ENSP00000346354:R155H	R	-	2	0	MUTYH	45571053	0.999000	0.42202	1.000000	0.80357	0.749000	0.42624	7.103000	0.77014	2.458000	0.83093	0.549000	0.68633	CGT		0.552	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222	
LRRC41	10489	broad.mit.edu	37	1	46745170	46745170	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:46745170G>A	ENST00000343304.6	-	8	2422	c.2137C>T	c.(2137-2139)Cgc>Tgc	p.R713C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	713					protein ubiquitination (GO:0016567)	membrane (GO:0016020)		p.R713C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CCACCCAGGCGGTTCCCTGGC	0.587																																					p.R713C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2137T	1						.						77.0	91.0	87.0					1																	46745170		2203	4300	6503	46517757	SO:0001583	missense	10489	exon8			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2137C>T	1.37:g.46745170G>A	ENSP00000343298:p.Arg713Cys		46517757	NM_006369	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	CCDS533.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729736	0.48833	.	.	ENSG00000132128	ENST00000343304	T	0.55052	0.54	4.57	3.65	0.41850	.	0.166822	0.42548	D	0.000696	T	0.56352	0.1979	N	0.19112	0.55	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.60342	-0.7282	10	0.59425	D	0.04	-8.9559	12.7442	0.57270	0.0:0.0:0.7026:0.2974	.	713;713	Q15345-3;Q15345	.;LRC41_HUMAN	C	713	ENSP00000343298:R713C	ENSP00000343298:R713C	R	-	1	0	LRRC41	46517757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.428000	0.52792	1.129000	0.42072	0.561000	0.74099	CGC		0.587	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369	
SLC5A9	200010	broad.mit.edu	37	1	48694605	48694605	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:48694605C>T	ENST00000438567.2	+	3	370	c.318C>T	c.(316-318)gcC>gcT	p.A106A	SLC5A9_ENST00000236495.5_Silent_p.A106A|SLC5A9_ENST00000420136.2_Silent_p.A99A|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Silent_p.A106A	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	106					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A99A(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GAGGCCTTGCCGTAGGTGGCT	0.577																																					p.A106A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C318T	1						.						82.0	80.0	80.0					1																	48694605		2203	4300	6503	48467192	SO:0001819	synonymous_variant	200010	exon3			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.318C>T	1.37:g.48694605C>T			48467192	NM_001135181	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Silent	SNP	ENST00000438567.2	37	CCDS30709.2																																																																																				0.577	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174	
CC2D1B	200014	broad.mit.edu	37	1	52826104	52826104	+	Missense_Mutation	SNP	C	C	T	rs149964496	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:52826104C>T	ENST00000371586.2	-	6	733	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.G199S	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	199						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 negative regulation of transcription (GO:0001078)	p.G199S(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						ACCTTCAGGCCGCGCTCGCAG	0.662													C|||	9	0.00179712	0.0053	0.0	5008	,	,		15992	0.0		0.002	False		,,,				2504	0.0				p.G199S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G595A	1						.	C	SER/GLY	17,4385		0,17,2184	20.0	22.0	22.0		595	5.6	1.0	1	dbSNP_134	22	17,8573		0,17,4278	no	missense	CC2D1B	NM_032449.2	56	0,34,6462	TT,TC,CC		0.1979,0.3862,0.2617	probably-damaging	199/859	52826104	34,12958	2201	4295	6496	52598692	SO:0001583	missense	200014	exon6			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.595G>A	1.37:g.52826104C>T	ENSP00000360642:p.Gly199Ser		52598692	NM_032449	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	CCDS30714.1	6	0.0027472527472527475	4	0.008130081300813009	0	0.0	0	0.0	2	0.002638522427440633	C	23.3	4.403101	0.83230	0.003862	0.001979	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	D;D	0.91295	-2.82;-2.82	5.57	5.57	0.84162	Domain of unknown function DM14 (1);	0.112580	0.64402	D	0.000013	D	0.93664	0.7976	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92965	0.6392	10	0.42905	T	0.14	-15.9576	17.0407	0.86488	0.0:1.0:0.0:0.0	.	199	Q5T0F9	C2D1B_HUMAN	S	199;199;113	ENSP00000360642:G199S;ENSP00000284376:G199S	ENSP00000284376:G199S	G	-	1	0	CC2D1B	52598692	1.000000	0.71417	0.962000	0.40283	0.368000	0.29767	6.596000	0.74113	2.619000	0.88677	0.561000	0.74099	GGC		0.662	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449	
PRPF38A	84950	broad.mit.edu	37	1	52878292	52878292	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:52878292A>G	ENST00000257181.9	+	5	791	c.605A>G	c.(604-606)gAg>gGg	p.E202G	snoU13_ENST00000458879.1_RNA|PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	202					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.E202G(1)		cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GAGGAGGATGAGAAGGTCTGG	0.428																																					p.E202G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A605G	1						.						89.0	99.0	95.0					1																	52878292		2203	4300	6503	52650880	SO:0001583	missense	84950	exon5			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.605A>G	1.37:g.52878292A>G	ENSP00000257181:p.Glu202Gly		52650880	NM_032864	Q96JW1|Q9BVZ8	Missense_Mutation	SNP	ENST00000257181.9	37	CCDS567.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614681	0.87359	.	.	ENSG00000134748	ENST00000257181	T	0.40225	1.04	5.43	5.43	0.79202	Pre-mRNA-splicing factor 38, C-terminal (1);	0.043415	0.85682	D	0.000000	T	0.45776	0.1359	L	0.34521	1.04	0.80722	D	1	P	0.51449	0.945	P	0.54460	0.753	T	0.21690	-1.0238	10	0.23302	T	0.38	-22.6093	15.7879	0.78322	1.0:0.0:0.0:0.0	.	202	Q8NAV1	PR38A_HUMAN	G	202	ENSP00000257181:E202G	ENSP00000257181:E202G	E	+	2	0	PRPF38A	52650880	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	8.526000	0.90588	2.189000	0.69895	0.528000	0.53228	GAG		0.428	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2	NM_032864	
MRPL37	51253	broad.mit.edu	37	1	54681863	54681863	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:54681863C>T	ENST00000360840.5	+	6	1117	c.1040C>T	c.(1039-1041)aCg>aTg	p.T347M	MRPL37_ENST00000605337.1_Missense_Mutation_p.T347M|MRPL37_ENST00000336230.6_Missense_Mutation_p.T216M	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	347					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.T347M(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						AGCGTGGGCACGGATGGACGT	0.517																																					p.T347M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1040T	1						.						179.0	156.0	164.0					1																	54681863		2203	4300	6503	54454451	SO:0001583	missense	51253	exon6			AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.1040C>T	1.37:g.54681863C>T	ENSP00000354086:p.Thr347Met		54454451	NM_016491	Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	ENST00000360840.5	37	CCDS589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.71|16.71	3.199769|3.199769	0.58126|0.58126	.|.	.|.	ENSG00000116221|ENSG00000116221	ENST00000398219|ENST00000360840;ENST00000329505;ENST00000336230	.|T;T	.|0.32753	.|1.44;1.44	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.046251	.|0.85682	.|D	.|0.000000	T|T	0.57140|0.57140	0.2033|0.2033	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.68483	.|0.945;0.958;0.923	T|T	0.60811|0.60811	-0.7189|-0.7189	5|10	.|0.62326	.|D	.|0.03	-1.1871|-1.1871	18.7983|18.7983	0.92005|0.92005	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|216;284;347	.|A6NHR2;E9PB99;Q9BZE1	.|.;.;RM37_HUMAN	W|M	132|347;284;216	.|ENSP00000354086:T347M;ENSP00000338526:T216M	.|ENSP00000328799:T284M	R|T	+|+	1|2	2|0	MRPL37|MRPL37	54454451|54454451	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.163000|0.163000	0.22366|0.22366	7.440000|7.440000	0.80464|0.80464	2.433000|2.433000	0.82419|0.82419	0.455000|0.455000	0.32223|0.32223	CGG|ACG		0.517	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491	
C1orf168	199920	broad.mit.edu	37	1	57257862	57257862	+	Silent	SNP	G	G	A	rs202073337		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:57257862G>A	ENST00000343433.6	-	2	704	c.624C>T	c.(622-624)aaC>aaT	p.N208N	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	208								p.N208N(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTTCAGAGACGTTATGTAATA	0.512																																					p.N208N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C624T	1						.						93.0	100.0	97.0					1																	57257862		2203	4300	6503	57030450	SO:0001819	synonymous_variant	199920	exon2			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.624C>T	1.37:g.57257862G>A			57030450	NM_001004303	Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	CCDS30729.1																																																																																				0.512	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303	
JAK1	3716	broad.mit.edu	37	1	65321241	65321241	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:65321241C>T	ENST00000342505.4	-	11	1847	c.1599G>A	c.(1597-1599)acG>acA	p.T533T		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	533	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.T533T(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TGATGTTATCCGTGCGCAGGA	0.587			Mis		ALL																																p.T533T			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1599A	1						.						65.0	69.0	68.0					1																	65321241		2123	4234	6357	65093829	SO:0001819	synonymous_variant	3716	exon11			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1599G>A	1.37:g.65321241C>T			65093829	NM_002227	Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	CCDS41346.1																																																																																				0.587	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
SERBP1	26135	broad.mit.edu	37	1	67890848	67890848	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:67890848G>A	ENST00000370995.2	-	3	608	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C	SERBP1_ENST00000370990.5_Missense_Mutation_p.R175C|SERBP1_ENST00000361219.6_Missense_Mutation_p.R175C|SERBP1_ENST00000484880.1_5'Flank|SERBP1_ENST00000370994.4_Missense_Mutation_p.R175C			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	175					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)	p.R175C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CCACGTCCACGGCCCCCTCGA	0.443																																					p.R175C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C523T	1						.						42.0	43.0	43.0					1																	67890848		2203	4294	6497	67663436	SO:0001583	missense	26135	exon3			AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.523C>T	1.37:g.67890848G>A	ENSP00000360034:p.Arg175Cys		67663436	NM_001018067	Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868362	0.72065	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	5.15	5.15	0.70609	.	0.118368	0.64402	D	0.000018	T	0.80099	0.4561	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.985;0.988;0.911;0.95	T	0.80379	-0.1407	9	0.48119	T	0.1	-27.9479	18.5865	0.91191	0.0:0.0:1.0:0.0	.	238;238;175;175	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	C	175	.	ENSP00000354591:R175C	R	-	1	0	SERBP1	67663436	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.168000	0.71908	2.559000	0.86315	0.462000	0.41574	CGT		0.443	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067	
LHX8	431707	broad.mit.edu	37	1	75626560	75626560	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:75626560C>A	ENST00000294638.5	+	10	1715	c.1051C>A	c.(1051-1053)Ctg>Atg	p.L351M	LHX8_ENST00000356261.3_Missense_Mutation_p.L341M	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	351					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L351M(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AATGACACAACTGCCAATAAG	0.333																																					p.L351M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1051A	1						.						134.0	131.0	132.0					1																	75626560		2203	4299	6502	75399148	SO:0001583	missense	431707	exon10			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.1051C>A	1.37:g.75626560C>A	ENSP00000294638:p.Leu351Met		75399148	NM_001001933	E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343804	0.61073	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87491	-2.26;-2.24	5.73	4.82	0.62117	.	1.222560	0.05957	N	0.639865	D	0.89068	0.6610	L	0.46157	1.445	0.46298	D	0.998977	D	0.71674	0.998	D	0.80764	0.994	T	0.81136	-0.1070	10	0.30854	T	0.27	.	14.6004	0.68438	0.0:0.9299:0.0:0.0701	.	351	Q68G74	LHX8_HUMAN	M	351;341	ENSP00000294638:L351M;ENSP00000348597:L341M	ENSP00000294638:L351M	L	+	1	2	LHX8	75399148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.253000	0.58791	1.409000	0.46915	0.655000	0.94253	CTG		0.333	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933	
LPAR3	23566	broad.mit.edu	37	1	85331691	85331691	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:85331691G>A	ENST00000440886.1	-	1	151	c.113C>T	c.(112-114)aCg>aTg	p.T38M	LPAR3_ENST00000370611.3_Missense_Mutation_p.T38M|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	38					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|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)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.T38M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GCAGAAAAACGTCCCAACACA	0.383																																					p.T38M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C113T	1						.						108.0	115.0	113.0					1																	85331691		2203	4300	6503	85104279	SO:0001583	missense	23566	exon2			AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.113C>T	1.37:g.85331691G>A	ENSP00000395389:p.Thr38Met		85104279	NM_012152	A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	CCDS700.1	.	.	.	.	.	.	.	.	.	.	G	8.439	0.850425	0.17034	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.37752	1.18;1.18	5.58	5.58	0.84498	.	0.328747	0.37304	N	0.002150	T	0.24470	0.0593	L	0.51422	1.61	0.09310	N	0.999999	P	0.46656	0.882	B	0.39660	0.306	T	0.16808	-1.0390	10	0.62326	D	0.03	.	19.5777	0.95452	0.0:0.0:1.0:0.0	.	38	Q9UBY5	LPAR3_HUMAN	M	38	ENSP00000395389:T38M;ENSP00000359643:T38M	ENSP00000359643:T38M	T	-	2	0	LPAR3	85104279	1.000000	0.71417	0.074000	0.20217	0.226000	0.24999	5.687000	0.68219	2.621000	0.88768	0.467000	0.42956	ACG		0.383	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152	
SYDE2	84144	broad.mit.edu	37	1	85656319	85656319	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:85656319G>A	ENST00000341460.5	-	2	911	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	288					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.R288C(1)|p.R210C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AGCCAATTGCGTTTCTTTGAA	0.388																																					p.R288C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C862T	1						.						161.0	151.0	154.0					1																	85656319		1847	4112	5959	85428907	SO:0001583	missense	84144	exon2			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.862C>T	1.37:g.85656319G>A	ENSP00000340594:p.Arg288Cys		85428907	NM_032184	Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138349	0.77775	.	.	ENSG00000097096	ENST00000341460	T	0.18657	2.2	6.17	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.13030	0.0316	M	0.76002	2.32	0.80722	D	1	B;P	0.43024	0.445;0.798	B;B	0.32980	0.044;0.156	T	0.07271	-1.0781	10	0.87932	D	0	.	13.2347	0.59963	0.1297:0.0:0.8703:0.0	.	288;288	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	C	288	ENSP00000340594:R288C	ENSP00000340594:R288C	R	-	1	0	SYDE2	85428907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.105000	0.71505	1.620000	0.50308	0.655000	0.94253	CGC		0.388	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2		
HS2ST1	9653	broad.mit.edu	37	1	87538643	87538643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:87538643C>T	ENST00000370550.5	+	2	514	c.151C>T	c.(151-153)Cga>Tga	p.R51*	HS2ST1_ENST00000356813.4_Nonsense_Mutation_p.R25*|RP5-1052I5.2_ENST00000370548.2_Nonsense_Mutation_p.R25*|HS2ST1_ENST00000370551.4_Nonsense_Mutation_p.R51*	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	51					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)	p.R51*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		ACACGAAGTCCGAGAAATTGA	0.418																																					p.R51X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C151T	1						.						75.0	69.0	71.0					1																	87538643		2203	4300	6503	87311231	SO:0001587	stop_gained	9653	exon2			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.151C>T	1.37:g.87538643C>T	ENSP00000359581:p.Arg51*		87311231	NM_001134492	D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Nonsense_Mutation	SNP	ENST00000370550.5	37	CCDS711.1	.	.	.	.	.	.	.	.	.	.	C	38	7.235221	0.98154	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	.	.	.	5.09	4.17	0.49024	.	0.066689	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4279	13.7197	0.62719	0.2938:0.7062:0.0:0.0	.	.	.	.	X	51;51;25;25	.	ENSP00000349268:R25X	R	+	1	2	HS2ST1	87311231	0.475000	0.25894	0.921000	0.36526	0.993000	0.82548	1.116000	0.31221	1.334000	0.45468	0.563000	0.77884	CGA		0.418	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262	
GLMN	11146	broad.mit.edu	37	1	92735333	92735333	+	Splice_Site	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:92735333G>A	ENST00000370360.3	-	9	1005	c.924C>T	c.(922-924)agC>agT	p.S308S	GLMN_ENST00000534881.1_Splice_Site_p.S308S	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	308					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)	p.S308S(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GGTACAATGGGCTAAAATAGA	0.308									Multiple Glomus Tumors (of the Skin), Familial																												p.S308S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C924T	1						.						64.0	64.0	64.0					1																	92735333		2203	4298	6501	92507921	SO:0001630	splice_region_variant	11146	exon9	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.924-1C>T	1.37:g.92735333G>A			92507921	NM_053274	Q5VVC3|Q9BVE8	Silent	SNP	ENST00000370360.3	37	CCDS738.1																																																																																				0.308	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070	Silent
RPAP2	79871	broad.mit.edu	37	1	92801972	92801972	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:92801972T>A	ENST00000610020.1	+	10	1716	c.1607T>A	c.(1606-1608)gTt>gAt	p.V536D		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	536					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.V536D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AAAAATCTTGTTCGAACTTTC	0.308																																					p.V536D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1607A	1						.						72.0	76.0	75.0					1																	92801972		2203	4297	6500	92574560	SO:0001583	missense	79871	exon10			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1607T>A	1.37:g.92801972T>A	ENSP00000476948:p.Val536Asp		92574560	NM_024813	C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	CCDS740.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729093	0.69074	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.74	5.74	0.90152	.	0.284721	0.39341	N	0.001385	T	0.63462	0.2513	M	0.70275	2.135	0.33819	D	0.628877	D	0.67145	0.996	P	0.58721	0.844	T	0.71787	-0.4487	8	0.87932	D	0	-1.3603	13.4234	0.61011	0.0:0.0:0.0:1.0	.	536	Q8IXW5	RPAP2_HUMAN	D	536	.	ENSP00000359368:V536D	V	+	2	0	RPAP2	92574560	0.824000	0.29247	0.387000	0.26183	0.990000	0.78478	4.777000	0.62361	2.197000	0.70478	0.528000	0.53228	GTT		0.308	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813	
BCAR3	8412	broad.mit.edu	37	1	94140314	94140314	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:94140314G>T	ENST00000370244.1	-	4	461	c.173C>A	c.(172-174)cCt>cAt	p.P58H	BCAR3_ENST00000370243.1_Missense_Mutation_p.P58H|BCAR3_ENST00000260502.6_Missense_Mutation_p.P58H	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	58					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)	p.P58H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TATGGGAGGAGGACCTTTTTT	0.562																																					p.P58H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C173A	1						.						81.0	70.0	74.0					1																	94140314		2203	4300	6503	93912902	SO:0001583	missense	8412	exon2			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.173C>A	1.37:g.94140314G>T	ENSP00000359264:p.Pro58His		93912902	NM_003567	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	CCDS745.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841286	0.51057	.	.	ENSG00000137936	ENST00000260502;ENST00000370244;ENST00000370243	T;T;T	0.23950	1.88;1.88;1.88	5.83	4.92	0.64577	.	0.289155	0.29814	N	0.011132	T	0.11750	0.0286	N	0.24115	0.695	0.80722	D	1	D	0.60575	0.988	P	0.46975	0.533	T	0.03166	-1.1065	10	0.56958	D	0.05	-0.7107	10.4793	0.44684	0.0697:0.1333:0.797:0.0	.	58	O75815	BCAR3_HUMAN	H	58	ENSP00000260502:P58H;ENSP00000359264:P58H;ENSP00000359263:P58H	ENSP00000260502:P58H	P	-	2	0	BCAR3	93912902	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.250000	0.58772	1.481000	0.48307	0.655000	0.94253	CCT		0.562	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1		
ABCD3	5825	broad.mit.edu	37	1	94943853	94943853	+	Silent	SNP	G	G	A	rs145275743		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:94943853G>A	ENST00000370214.4	+	8	690	c.666G>A	c.(664-666)acG>acA	p.T222T	ABCD3_ENST00000394233.2_Silent_p.T222T|ABCD3_ENST00000454898.2_Silent_p.T246T|ABCD3_ENST00000315713.5_Silent_p.T222T|ABCD3_ENST00000536817.1_Silent_p.T149T	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	222	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.T222T(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTAAGTTAACGAGTGCAATTG	0.274																																					p.T222T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G666A	1						.	G	,	1,4401	2.1+/-5.4	0,1,2200	70.0	72.0	71.0		666,666	-5.0	0.9	1	dbSNP_134	71	0,8578		0,0,4289	no	coding-synonymous,coding-synonymous	ABCD3	NM_001122674.1,NM_002858.3	,	0,1,6489	AA,AG,GG		0.0,0.0227,0.0077	,	222/237,222/660	94943853	1,12979	2201	4289	6490	94716441	SO:0001819	synonymous_variant	5825	exon8			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.666G>A	1.37:g.94943853G>A			94716441	NM_002858	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	ENST00000370214.4	37	CCDS749.1																																																																																				0.274	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858	
SYCP1	6847	broad.mit.edu	37	1	115537402	115537402	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:115537402delA	ENST00000369522.3	+	31	3027	c.2787delA	c.(2785-2787)ccafs	p.P929fs	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Del_p.P929fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	929					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.K931fs*6(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAAACACCAAAAAAGGTAG	0.274																																					p.P929fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2787delA	1						.						30.0	33.0	32.0					1																	115537402		2194	4284	6478	115338925	SO:0001589	frameshift_variant	6847	exon31			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2787delA	1.37:g.115537402delA	ENSP00000358535:p.Pro929fs		115338925	NM_003176	O14963|Q5VXJ6	Frame_Shift_Del	DEL	ENST00000369522.3	37	CCDS879.1																																																																																				0.274	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
FAM189B	10712	broad.mit.edu	37	1	155221578	155221578	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:155221578delG	ENST00000361361.2	-	6	1249	c.740delC	c.(739-741)ccafs	p.P249fs	FAM189B_ENST00000350210.2_Frame_Shift_Del_p.P153fs|FAM189B_ENST00000368368.3_Frame_Shift_Del_p.P231fs|FAM189B_ENST00000472550.1_5'UTR	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	249	Poly-Pro.					integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)	p.P247fs*74(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTAGGGCGGTGGGGGCACAGG	0.632																																					p.P151fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.452delC	1						.						13.0	14.0	14.0					1																	155221578		2198	4298	6496	153488202	SO:0001589	frameshift_variant	10712	exon3			AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.740delC	1.37:g.155221578delG	ENSP00000354958:p.Pro249fs		153488202	NM_198264	B1AVS5|Q8IXL3|Q9BR66	Frame_Shift_Del	DEL	ENST00000361361.2	37	CCDS1103.1																																																																																				0.632	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589	
ASH1L	55870	broad.mit.edu	37	1	155408564	155408566	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:155408564_155408566delATG	ENST00000368346.3	-	5	6019_6021	c.5380_5382delCAT	c.(5380-5382)catdel	p.H1794del	ASH1L_ENST00000392403.3_In_Frame_Del_p.H1794del			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1794					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.H1794delH(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)			TTCTCTTGATATGATGGGGGGAA	0.429																																					p.1794_1794del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.5380_5382del	1						.																																			153675190	SO:0001651	inframe_deletion	55870	exon5			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.5380_5382delCAT	1.37:g.155408567_155408569delATG	ENSP00000357330:p.His1794del		153675188	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	In_Frame_Del	DEL	ENST00000368346.3	37																																																																																					0.429	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:155886422_155886423delCT	ENST00000368321.3	-	12	1569_1570	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.R516fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	516							RNA binding (GO:0003723)	p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396																																					p.516_516del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1546_1547del	1						.																																			154153047	SO:0001589	frameshift_variant	22889	exon12			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1546_1547delAG	1.37:g.155886432_155886433delCT	ENSP00000357304:p.Arg516fs		154153046	NM_014949	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	ENST00000368321.3	37	CCDS30885.1																																																																																				0.396	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949	
PLEKHA6	22874	broad.mit.edu	37	1	204234135	204234135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:204234135delG	ENST00000272203.3	-	6	632	c.316delC	c.(316-318)ctcfs	p.L107fs	PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.L107fs|PLEKHA6_ENST00000485632.1_5'Flank	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	107	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.L106fs*2(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AAGCTCAGGAGGGGGATGCTG	0.597																																					p.L106fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.316delC	1						.						155.0	138.0	144.0					1																	204234135		2203	4300	6503	202500758	SO:0001589	frameshift_variant	22874	exon6			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.316delC	1.37:g.204234135delG	ENSP00000272203:p.Leu107fs		202500758	NM_014935	A7MD51|Q5VTI6	Frame_Shift_Del	DEL	ENST00000272203.3	37	CCDS1444.1																																																																																				0.597	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935	
PLXNA2	5362	broad.mit.edu	37	1	208315787	208315787	+	Frame_Shift_Del	DEL	G	G	-	rs200374067	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:208315787delG	ENST00000367033.3	-	4	2150	c.1393delC	c.(1393-1395)catfs	p.H465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACCCCACCATGGGGGGGACCG	0.592																																					p.H465fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1393delC	1						.						98.0	99.0	99.0					1																	208315787		2203	4300	6503	206382410	SO:0001589	frameshift_variant	5362	exon4			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1393delC	1.37:g.208315787delG	ENSP00000356000:p.His465fs		206382410	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Frame_Shift_Del	DEL	ENST00000367033.3	37	CCDS31013.1																																																																																				0.592	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	
OR2T27	403239	broad.mit.edu	37	1	248814155	248814155	+	Missense_Mutation	SNP	C	C	T	rs543746159	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr1:248814155C>T	ENST00000344889.3	-	1	30	c.31G>A	c.(31-33)Gac>Aac	p.D11N		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D11Y(2)|p.D11N(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGATAAAGTCGGCATACACG	0.443													C|||	2	0.000399361	0.0015	0.0	5008	,	,		28258	0.0		0.0	False		,,,				2504	0.0				p.D11N												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G31A	1						.																																			246880778	SO:0001583	missense	403239	exon1				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.31G>A	1.37:g.248814155C>T	ENSP00000342008:p.Asp11Asn		246880778	NM_001001824		Missense_Mutation	SNP	ENST00000344889.3	37	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	4.302	0.055400	0.08291	.	.	ENSG00000187701	ENST00000344889	T	0.03094	4.05	3.3	2.37	0.29283	.	0.000000	0.41938	D	0.000792	T	0.05593	0.0147	M	0.67397	2.05	0.09310	N	1	B	0.27559	0.181	B	0.26969	0.075	T	0.21449	-1.0245	10	0.52906	T	0.07	.	9.6882	0.40111	0.0:0.8903:0.0:0.1097	.	11	Q8NH04	O2T27_HUMAN	N	11	ENSP00000342008:D11N	ENSP00000342008:D11N	D	-	1	0	OR2T27	246880778	0.012000	0.17670	0.076000	0.20297	0.033000	0.12548	1.381000	0.34362	0.724000	0.32296	0.194000	0.17425	GAC		0.443	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824	
BIRC3	330	broad.mit.edu	37	11	102206715	102206715	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:102206715G>A	ENST00000263464.3	+	7	4093	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q	BIRC3_ENST00000532808.1_Missense_Mutation_p.R448Q	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	448	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R448Q(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TTATTAATCCGGAAGAATAGA	0.318			T	MALT1	MALT																																p.R448Q			Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1343A	11						.						68.0	74.0	72.0					11																	102206715		2202	4299	6501	101711925	SO:0001583	missense	330	exon8			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1343G>A	11.37:g.102206715G>A	ENSP00000263464:p.Arg448Gln		101711925	NM_182962	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688835	0.48097	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.21191	2.02;2.02	5.27	4.29	0.51040	DEATH-like (2);Caspase Recruitment (3);	0.051514	0.85682	D	0.000000	T	0.23330	0.0564	L	0.60455	1.87	0.42943	D	0.994357	B	0.29909	0.261	B	0.30943	0.122	T	0.04870	-1.0921	10	0.52906	T	0.07	.	13.2776	0.60196	0.1282:0.0:0.8718:0.0	.	448	Q13489	BIRC3_HUMAN	Q	448;448;216	ENSP00000263464:R448Q;ENSP00000432907:R448Q	ENSP00000263464:R448Q	R	+	2	0	BIRC3	101711925	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.196000	0.42686	2.751000	0.94390	0.650000	0.86243	CGG		0.318	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165	
BIRC3	330	broad.mit.edu	37	11	102206835	102206835	+	Missense_Mutation	SNP	C	C	T	rs200008391		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:102206835C>T	ENST00000263464.3	+	7	4213	c.1463C>T	c.(1462-1464)aCg>aTg	p.T488M	BIRC3_ENST00000532808.1_Missense_Mutation_p.T488M	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	488	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T488M(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		AAGACACAGACGTCTTTACAA	0.353			T	MALT1	MALT																																p.T488M			Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1463T	11						.						115.0	118.0	117.0					11																	102206835		2203	4299	6502	101712045	SO:0001583	missense	330	exon8			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1463C>T	11.37:g.102206835C>T	ENSP00000263464:p.Thr488Met		101712045	NM_182962	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611429	0.28712	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.21543	2.0;2.0	4.89	1.8	0.24995	DEATH-like (2);Caspase Recruitment (3);	0.238168	0.51477	N	0.000094	T	0.30135	0.0755	M	0.80183	2.485	0.09310	N	1	B	0.26672	0.156	B	0.36378	0.223	T	0.30446	-0.9978	10	0.52906	T	0.07	.	10.7241	0.46057	0.0:0.6941:0.0:0.3059	.	488	Q13489	BIRC3_HUMAN	M	488;488;256	ENSP00000263464:T488M;ENSP00000432907:T488M	ENSP00000263464:T488M	T	+	2	0	BIRC3	101712045	0.004000	0.15560	0.685000	0.30070	0.989000	0.77384	0.331000	0.19733	0.671000	0.31185	0.655000	0.94253	ACG		0.353	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165	
MMP7	4316	broad.mit.edu	37	11	102398591	102398591	+	Missense_Mutation	SNP	C	C	T	rs145006821		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:102398591C>T	ENST00000260227.4	-	2	284	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	78					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V78I(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	ATTTCTATGACGCGGGAGTTT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		18024	0.001		0.0	False		,,,				2504	0.0				p.V78I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G232A	11						.	C	ILE/VAL	0,4406		0,0,2203	94.0	102.0	99.0		232	-8.0	0.0	11	dbSNP_134	99	1,8597	1.2+/-3.3	0,1,4298	no	missense	MMP7	NM_002423.3	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	78/268	102398591	1,13003	2203	4299	6502	101903801	SO:0001583	missense	4316	exon2			Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.232G>A	11.37:g.102398591C>T	ENSP00000260227:p.Val78Ile		101903801	NM_002423	Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	CCDS8317.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.355	0.831875	0.16820	0.0	1.16E-4	ENSG00000137673	ENST00000260227	T	0.36340	1.26	5.39	-8.02	0.01118	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	1.131920	0.06679	N	0.767584	T	0.11580	0.0282	N	0.01668	-0.77	0.09310	N	1	B;B;B	0.15141	0.012;0.001;0.001	B;B;B	0.15052	0.012;0.002;0.003	T	0.37197	-0.9716	10	0.39692	T	0.17	-0.1407	7.6475	0.28329	0.0:0.3793:0.2089:0.4119	.	78;78;78	B4DDW4;Q53GF1;P09237	.;.;MMP7_HUMAN	I	78	ENSP00000260227:V78I	ENSP00000260227:V78I	V	-	1	0	MMP7	101903801	0.002000	0.14202	0.000000	0.03702	0.062000	0.15995	0.628000	0.24522	-1.955000	0.01023	-1.384000	0.01168	GTC		0.408	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2		
CUL5	8065	broad.mit.edu	37	11	107925641	107925641	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:107925641C>T	ENST00000393094.2	+	7	1355	c.739C>T	c.(739-741)Cgt>Tgt	p.R247C		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	247					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)	p.R247C(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ACGAGCACTACGTTATTTAGA	0.323																																					p.R247C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C739T	11						.						73.0	71.0	71.0					11																	107925641		2201	4295	6496	107430851	SO:0001583	missense	8065	exon7			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.739C>T	11.37:g.107925641C>T	ENSP00000376808:p.Arg247Cys		107430851	NM_003478	A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237331	0.95240	.	.	ENSG00000166266	ENST00000393094	T	0.74526	-0.85	6.02	6.02	0.97574	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86184	0.5872	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.85856	0.1407	10	0.66056	D	0.02	-8.6771	20.5407	0.99260	0.0:1.0:0.0:0.0	.	247	Q93034	CUL5_HUMAN	C	247	ENSP00000376808:R247C	ENSP00000376808:R247C	R	+	1	0	CUL5	107430851	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.014000	0.57145	2.865000	0.98341	0.655000	0.94253	CGT		0.323	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1		
KDELC2	143888	broad.mit.edu	37	11	108361840	108361840	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:108361840C>T	ENST00000323468.5	-	2	322	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	KDELC2_ENST00000434945.2_Missense_Mutation_p.R30Q|KDELC2_ENST00000375648.1_Missense_Mutation_p.R30Q	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	86						endoplasmic reticulum (GO:0005783)		p.R86Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GACATGTATCCGGACCAACTC	0.378																																					p.R86Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G257A	11						.						85.0	79.0	81.0					11																	108361840		1872	4094	5966	107867050	SO:0001583	missense	143888	exon2			AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.257G>A	11.37:g.108361840C>T	ENSP00000315386:p.Arg86Gln		107867050	NM_153705	Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717876	0.68844	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	D;T;T	0.84442	-1.85;1.6;1.87	5.34	4.36	0.52297	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.051096	0.85682	D	0.000000	D	0.86020	0.5833	M	0.76328	2.33	0.53005	D	0.999968	P;P	0.52842	0.729;0.956	B;P	0.47118	0.337;0.538	D	0.86355	0.1713	10	0.49607	T	0.09	-15.0416	12.0366	0.53429	0.0:0.8671:0.0:0.1329	.	86;30	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	Q	86;30;30	ENSP00000315386:R86Q;ENSP00000413429:R30Q;ENSP00000364799:R30Q	ENSP00000315386:R86Q	R	-	2	0	KDELC2	107867050	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.490000	0.60319	2.785000	0.95823	0.655000	0.94253	CGG		0.378	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705	
LAYN	143903	broad.mit.edu	37	11	111428283	111428283	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:111428283G>A	ENST00000375615.3	+	7	885	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	LAYN_ENST00000525126.1_Missense_Mutation_p.A234T|LAYN_ENST00000375614.2_Missense_Mutation_p.A226T|LAYN_ENST00000436913.2_Missense_Mutation_p.A81T|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000533265.1_Missense_Mutation_p.A226T	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	234						cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.A226T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	CTTGAATCTGGCCTACATCCT	0.423																																					p.A226T	Ovarian(17;551 586 12136 22082 22900)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G676A	11						.						373.0	344.0	353.0					11																	111428283		2201	4297	6498	110933493	SO:0001583	missense	143903	exon6				CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.700G>A	11.37:g.111428283G>A	ENSP00000364765:p.Ala234Thr		110933493	NM_178834	A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Missense_Mutation	SNP	ENST00000375615.3	37	CCDS58178.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512652	0.44660	.	.	ENSG00000204381	ENST00000375614;ENST00000375615;ENST00000525126;ENST00000436913;ENST00000533265;ENST00000541011;ENST00000530962	T;T;T;T	0.05996	3.87;3.47;3.36;4.06	5.81	4.84	0.62591	.	1.051460	0.07339	N	0.880480	T	0.16257	0.0391	M	0.65975	2.015	0.34404	D	0.69559	D;P;P;P;P	0.53745	0.962;0.839;0.682;0.839;0.868	P;B;B;B;B	0.50082	0.63;0.298;0.154;0.298;0.439	T	0.05971	-1.0853	10	0.28530	T	0.3	-7.6633	14.0271	0.64592	0.0:0.2529:0.7471:0.0	.	81;226;234;234;226	B4DJU0;E9PMI0;Q6UX15;E9PQU7;Q6UX15-2	.;.;LAYN_HUMAN;.;.	T	226;234;234;81;226;189;82	ENSP00000364764:A226T;ENSP00000364765:A234T;ENSP00000434328:A234T;ENSP00000434972:A226T	ENSP00000364764:A226T	A	+	1	0	LAYN	110933493	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	3.159000	0.50731	2.763000	0.94921	0.650000	0.86243	GCC		0.423	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1	NM_178834	
USP28	57646	broad.mit.edu	37	11	113679081	113679081	+	Missense_Mutation	SNP	T	T	C	rs36042945		TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:113679081T>C	ENST00000003302.4	-	18	2311	c.2243A>G	c.(2242-2244)cAg>cGg	p.Q748R	USP28_ENST00000544967.1_Missense_Mutation_p.Q456R|USP28_ENST00000545540.1_Missense_Mutation_p.Q623R|USP28_ENST00000260188.5_Missense_Mutation_p.Q748R	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	748					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q748R(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TGCAATAGCCTGGGCAGTTTG	0.522																																					p.Q748R	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2243G	11						.						155.0	144.0	148.0					11																	113679081		2201	4296	6497	113184291	SO:0001583	missense	57646	exon18			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2243A>G	11.37:g.113679081T>C	ENSP00000003302:p.Gln748Arg		113184291	NM_020886	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.513518	0.27123	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.41400	1.54;1.58;1.0;1.59	5.36	5.36	0.76844	.	0.735735	0.13907	N	0.354539	T	0.23688	0.0573	N	0.12569	0.235	0.25424	N	0.988242	B;B;B	0.20887	0.001;0.049;0.034	B;B;B	0.18871	0.001;0.01;0.023	T	0.15178	-1.0446	10	0.15066	T	0.55	-10.986	9.5986	0.39589	0.2649:0.0:0.0:0.7351	.	623;748;456	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	R	748;748;456;623	ENSP00000003302:Q748R;ENSP00000260188:Q748R;ENSP00000442431:Q456R;ENSP00000444991:Q623R	ENSP00000003302:Q748R	Q	-	2	0	USP28	113184291	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.854000	0.48325	2.254000	0.74563	0.533000	0.62120	CAG		0.522	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		
SIDT2	51092	broad.mit.edu	37	11	117058364	117058364	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:117058364G>A	ENST00000324225.4	+	12	1639	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	SIDT2_ENST00000431081.2_Missense_Mutation_p.D374N	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	370					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.D370N(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TGGATCTACCGATGGTCTGGT	0.617																																					p.D370N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1108A	11						.						129.0	109.0	116.0					11																	117058364		2201	4296	6497	116563574	SO:0001583	missense	51092	exon12			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1108G>A	11.37:g.117058364G>A	ENSP00000314023:p.Asp370Asn		116563574	NM_001040455	Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235725	0.58886	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.17528	2.28;2.27;2.27	4.54	4.54	0.55810	.	0.464892	0.21515	N	0.073302	T	0.11452	0.0279	N	0.24115	0.695	0.38677	D	0.95244	P;P;P;P	0.51791	0.617;0.948;0.781;0.482	B;B;B;B	0.36244	0.14;0.176;0.22;0.067	T	0.14559	-1.0468	10	0.49607	T	0.09	-7.7506	15.6416	0.77009	0.0:0.0:1.0:0.0	.	370;374;370;370	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	N	370;370;374	ENSP00000314023:D370N;ENSP00000278951:D370N;ENSP00000399635:D374N	ENSP00000278951:D370N	D	+	1	0	SIDT2	116563574	1.000000	0.71417	0.361000	0.25849	0.052000	0.14988	5.377000	0.66184	2.357000	0.79964	0.462000	0.41574	GAT		0.617	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996	
UBE4A	9354	broad.mit.edu	37	11	118252107	118252107	+	Splice_Site	SNP	A	A	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:118252107A>T	ENST00000431736.2	+	12	1971	c.1899A>T	c.(1897-1899)gaA>gaT	p.E633D	UBE4A_ENST00000545354.1_Splice_Site_p.E98D|UBE4A_ENST00000252108.3_Splice_Site_p.E626D					ubiquitination factor E4A									p.E633D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTTTTTCAGAATTTTTTGCAG	0.363																																					p.E633D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1899T	11						.						138.0	138.0	138.0					11																	118252107		2200	4296	6496	117757317	SO:0001630	splice_region_variant	9354	exon12			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1898-1A>T	11.37:g.118252107A>T			117757317	NM_004788		Missense_Mutation	SNP	ENST00000431736.2	37	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096083	0.76870	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.53206	0.63;0.63;0.63	6.08	3.78	0.43462	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.66771	0.2823	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.66646	-0.5871	10	0.62326	D	0.03	.	9.2467	0.37529	0.798:0.0:0.202:0.0	.	626;633	Q14139;Q14139-2	UBE4A_HUMAN;.	D	626;633;98	ENSP00000252108:E626D;ENSP00000387362:E633D;ENSP00000438918:E98D	ENSP00000252108:E626D	E	+	3	2	UBE4A	117757317	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.766000	0.38491	0.543000	0.28864	0.482000	0.46254	GAA		0.363	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788	Missense_Mutation
KMT2A	4297	broad.mit.edu	37	11	118373690	118373690	+	Silent	SNP	G	G	A	rs192173056		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:118373690G>A	ENST00000389506.5	+	27	7074	c.7074G>A	c.(7072-7074)tcG>tcA	p.S2358S	KMT2A_ENST00000534358.1_Silent_p.S2361S|KMT2A_ENST00000354520.4_Silent_p.S2320S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2358					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.S2358S(1)									CTTCAGTGTCGTTTTCTTCTA	0.463													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19524	0.0		0.0	False		,,,				2504	0.0				p.S2358S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7074A	11						.						101.0	110.0	107.0					11																	118373690		2200	4296	6496	117878900	SO:0001819	synonymous_variant	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.7074G>A	11.37:g.118373690G>A			117878900	NM_005933	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	CCDS31686.1																																																																																				0.463	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
BCL9L	283149	broad.mit.edu	37	11	118779311	118779311	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:118779311C>T	ENST00000334801.3	-	2	1044	c.80G>A	c.(79-81)cGc>cAc	p.R27H	BCL9L_ENST00000526143.1_5'UTR|MIR4492_ENST00000581627.1_RNA	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	27					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.R27H(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCAATGACCGCGGGGGGACAG	0.597																																					p.R27H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G80A	11						.						36.0	44.0	41.0					11																	118779311		2145	4257	6402	118284521	SO:0001583	missense	283149	exon2			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.80G>A	11.37:g.118779311C>T	ENSP00000335320:p.Arg27His		118284521	NM_182557	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646990	0.87958	.	.	ENSG00000186174	ENST00000334801;ENST00000392849;ENST00000431085;ENST00000532899	T;T	0.65178	-0.14;-0.14	5.69	4.74	0.60224	.	0.225948	0.22897	N	0.054304	T	0.53110	0.1776	N	0.08118	0	0.29840	N	0.829294	D;D	0.60575	0.988;0.979	P;P	0.50896	0.653;0.451	T	0.59579	-0.7428	10	0.87932	D	0	-5.5948	16.7019	0.85351	0.0:0.8709:0.1291:0.0	.	22;27	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	H	27	ENSP00000335320:R27H;ENSP00000432804:R27H	ENSP00000335320:R27H	R	-	2	0	BCL9L	118284521	0.994000	0.37717	0.947000	0.38551	0.975000	0.68041	1.396000	0.34531	2.688000	0.91661	0.561000	0.74099	CGC		0.597	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	
PDZD3	79849	broad.mit.edu	37	11	119059247	119059247	+	Missense_Mutation	SNP	G	G	A	rs137900666	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:119059247G>A	ENST00000531114.1	+	6	1793	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	PDZD3_ENST00000355547.5_Missense_Mutation_p.R349H|PDZD3_ENST00000392817.2_Missense_Mutation_p.R415H|PDZD3_ENST00000322712.4_Missense_Mutation_p.R335H|PDZD3_ENST00000525131.1_Missense_Mutation_p.R336H			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	415					cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)	p.R335H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GAGGCGGACCGCTTCTTCAGC	0.657													G|||	7	0.00139776	0.0053	0.0	5008	,	,		15240	0.0		0.0	False		,,,				2504	0.0				p.R349H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1046A	11						.	G	HIS/ARG,HIS/ARG	6,4394	11.4+/-27.6	0,6,2194	34.0	32.0	33.0		1046,1004	3.7	1.0	11	dbSNP_134	33	0,8590		0,0,4295	yes	missense,missense	PDZD3	NM_001168468.1,NM_024791.3	29,29	0,6,6489	AA,AG,GG		0.0,0.1364,0.0462	benign,benign	349/506,335/492	119059247	6,12984	2200	4295	6495	118564457	SO:0001583	missense	79849	exon8			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.1244G>A	11.37:g.119059247G>A	ENSP00000431164:p.Arg415His		118564457	NM_001168468	Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37		.	.	.	.	.	.	.	.	.	.	G	11.48	1.652343	0.29336	0.001364	0.0	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.66	3.74	0.42951	PDZ/DHR/GLGF (1);	0.551038	0.19296	N	0.117778	T	0.16171	0.0389	L	0.32530	0.975	0.33118	D	0.541443	B;P;B;B	0.42078	0.397;0.77;0.38;0.387	B;B;B;B	0.24974	0.053;0.057;0.031;0.014	T	0.26360	-1.0105	10	0.42905	T	0.14	-11.2701	7.5178	0.27610	0.1494:0.2546:0.5961:0.0	.	336;415;349;335	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	H	336;415;349;335;349;415	ENSP00000434559:R336H;ENSP00000431164:R415H;ENSP00000347742:R349H;ENSP00000327107:R335H;ENSP00000376564:R415H	ENSP00000327107:R335H	R	+	2	0	PDZD3	118564457	0.999000	0.42202	1.000000	0.80357	0.255000	0.26057	1.417000	0.34770	1.369000	0.46134	0.609000	0.83330	CGC		0.657	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791	
THY1	7070	broad.mit.edu	37	11	119291056	119291056	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:119291056C>T	ENST00000284240.5	-	3	1117	c.78G>A	c.(76-78)acG>acA	p.T26T	USP2-AS1_ENST00000500970.1_RNA|RP11-334E6.12_ENST00000578216.1_RNA|THY1_ENST00000528522.1_Silent_p.T26T|THY1_ENST00000580275.1_Intron|THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000498979.2_RNA|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000530002.1_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	26	Ig-like V-type.				angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)	p.T26T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		CTAGGCAGGCCGTTAGGCTGG	0.617																																					p.T26T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G78A	11						.						84.0	78.0	80.0					11																	119291056		2199	4295	6494	118796266	SO:0001819	synonymous_variant	7070	exon3			M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.78G>A	11.37:g.119291056C>T			118796266	NM_006288	Q16008|Q9NSP1	Silent	SNP	ENST00000284240.5	37	CCDS8424.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729531	0.30684	.	.	ENSG00000154096	ENST00000527590	.	.	.	5.13	-9.74	0.00509	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.53688	D	0.999977	.	.	.	.	.	.	T	0.50110	-0.8866	4	.	.	.	-5.4845	5.7504	0.18144	0.1146:0.2139:0.0792:0.5922	.	.	.	.	Q	34	.	.	R	-	2	0	THY1	118796266	0.005000	0.15991	0.729000	0.30791	0.832000	0.47134	-2.287000	0.01151	-1.620000	0.01564	-1.303000	0.01326	CGG		0.617	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388370.2	NM_006288	
PVRL1	5818	broad.mit.edu	37	11	119535968	119535968	+	Missense_Mutation	SNP	C	C	T	rs148045547	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:119535968C>T	ENST00000264025.3	-	6	1573	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	348					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.R348H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CGGCCCGGCGCGCCGCCCATG	0.677																																					p.R348H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1043A	11						.	C	HIS/ARG,	3,4393		0,3,2195	22.0	26.0	25.0		1043,	4.3	1.0	11	dbSNP_134	25	0,8584		0,0,4292	no	missense,intron	PVRL1	NM_002855.4,NM_203285.1	29,	0,3,6487	TT,TC,CC		0.0,0.0682,0.0231	possibly-damaging,	348/518,	119535968	3,12977	2198	4292	6490	119041178	SO:0001583	missense	5818	exon6			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1043G>A	11.37:g.119535968C>T	ENSP00000264025:p.Arg348His		119041178	NM_002855	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	-	19.16	3.773299	0.69992	6.82E-4	0.0	ENSG00000110400	ENST00000264025	T	0.75938	-0.98	4.32	4.32	0.51571	.	0.331525	0.28072	N	0.016707	T	0.69251	0.3090	L	0.52011	1.625	0.80722	D	1	D	0.61080	0.989	B	0.42087	0.375	T	0.71170	-0.4671	10	0.33141	T	0.24	.	16.1855	0.81948	0.0:1.0:0.0:0.0	.	348	Q15223	PVRL1_HUMAN	H	348	ENSP00000264025:R348H	ENSP00000264025:R348H	R	-	2	0	PVRL1	119041178	1.000000	0.71417	0.974000	0.42286	0.986000	0.74619	3.522000	0.53480	2.108000	0.64289	0.479000	0.44913	CGC		0.677	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1		
MUC5B	727897	broad.mit.edu	37	11	1273619	1273619	+	Silent	SNP	C	C	T	rs369818141		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:1273619C>T	ENST00000529681.1	+	32	14968	c.14910C>T	c.(14908-14910)taC>taT	p.Y4970Y	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.Y4973Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4970					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.Y4925Y(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)		GCCATTTCTACGCAGTGTGCA	0.587																																					p.Y4970Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C14910T	11						.	C		1,4191		0,1,2095	82.0	99.0	93.0		14910	-8.8	0.2	11		93	0,8418		0,0,4209	no	coding-synonymous	MUC5B	NM_002458.2		0,1,6304	TT,TC,CC		0.0,0.0239,0.0079		4970/5763	1273619	1,12609	2096	4209	6305	1230195	SO:0001819	synonymous_variant	727897	exon32			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.14910C>T	11.37:g.1273619C>T			1230195	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.587	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
C11orf63	79864	broad.mit.edu	37	11	122795675	122795675	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:122795675T>A	ENST00000531316.1	+	3	1027	c.935T>A	c.(934-936)aTc>aAc	p.I312N	RNU4-23P_ENST00000362839.1_RNA|C11orf63_ENST00000227349.2_Missense_Mutation_p.I312N			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	312					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.I312N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AATGCTGCCATCGATCCTGAA	0.403																																					p.I312N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T935A	11						.						186.0	155.0	165.0					11																	122795675		2202	4299	6501	122300885	SO:0001583	missense	79864	exon4			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.935T>A	11.37:g.122795675T>A	ENSP00000431669:p.Ile312Asn		122300885	NM_024806	A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.368618	0.61624	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.47528	0.84;0.84	5.98	2.4	0.29515	.	0.621973	0.15694	N	0.249267	T	0.49779	0.1577	M	0.63428	1.95	0.09310	N	1	P	0.49090	0.919	P	0.48627	0.584	T	0.40813	-0.9543	10	0.72032	D	0.01	-0.5844	8.1297	0.31020	0.0:0.232:0.0:0.768	.	312	Q6NUN7	CK063_HUMAN	N	312	ENSP00000227349:I312N;ENSP00000431669:I312N	ENSP00000227349:I312N	I	+	2	0	C11orf63	122300885	0.000000	0.05858	0.161000	0.22692	0.986000	0.74619	0.250000	0.18235	0.519000	0.28406	0.460000	0.39030	ATC		0.403	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806	
SIAE	54414	broad.mit.edu	37	11	124517286	124517286	+	Missense_Mutation	SNP	C	C	T	rs147649509	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:124517286C>T	ENST00000263593.3	-	7	1113	c.941G>A	c.(940-942)cGt>cAt	p.R314H	SIAE_ENST00000545756.1_Missense_Mutation_p.R279H			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	314			R -> H (defective enzyme secretion and activity). {ECO:0000269|PubMed:20555325}.		carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)	p.R314H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGGGAAGAAACGCTCCGTCTG	0.478													C|||	5	0.000998403	0.0015	0.0	5008	,	,		18286	0.0		0.0	False		,,,				2504	0.0031				p.R314H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G941A	11						.	C	HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	157.0	126.0	136.0		836,941	2.3	0.0	11	dbSNP_134	136	0,8598		0,0,4299	yes	missense,missense	SIAE	NM_001199922.1,NM_170601.4	29,29	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	279/489,314/524	124517286	1,12999	2201	4299	6500	124022496	SO:0001583	missense	54414	exon7			AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.941G>A	11.37:g.124517286C>T	ENSP00000263593:p.Arg314His		124022496	NM_170601	B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	C	6.337	0.430194	0.12045	2.27E-4	0.0	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.94793	-3.52;-3.52	5.44	2.35	0.29111	Esterase, SGNH hydrolase-type (1);	0.489617	0.21668	N	0.070918	D	0.91236	0.7238	M	0.77820	2.39	0.09310	N	1	B	0.22683	0.073	B	0.19946	0.027	T	0.77552	-0.2545	10	0.15066	T	0.55	-12.3651	5.0126	0.14321	0.2581:0.5417:0.1258:0.0745	.	314	Q9HAT2	SIAE_HUMAN	H	314;279	ENSP00000263593:R314H;ENSP00000437877:R279H	ENSP00000263593:R314H	R	-	2	0	SIAE	124022496	0.561000	0.26578	0.047000	0.18901	0.055000	0.15305	0.871000	0.28023	0.776000	0.33473	-0.917000	0.02746	CGT		0.478	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601	
SLC37A2	219855	broad.mit.edu	37	11	124952225	124952225	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:124952225A>G	ENST00000403796.2	+	10	1272	c.971A>G	c.(970-972)aAt>aGt	p.N324S	SLC37A2_ENST00000308074.4_Missense_Mutation_p.N324S|SLC37A2_ENST00000407458.1_Missense_Mutation_p.N324S|SLC37A2_ENST00000298280.5_Missense_Mutation_p.N324S	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	324					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.N324S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TACATCGCCAATGTGGGTAAG	0.577																																					p.N324S	Melanoma(11;373 620 21213 26083 47768)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A971G	11						.						127.0	109.0	115.0					11																	124952225		2201	4299	6500	124457435	SO:0001583	missense	219855	exon10			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.971A>G	11.37:g.124952225A>G	ENSP00000384407:p.Asn324Ser		124457435	NM_001145290	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	ENST00000403796.2	37	CCDS44757.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.652278	0.29336	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000298280;ENST00000308074	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	4.98	4.98	0.66077	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.046569	0.85682	D	0.000000	T	0.46386	0.1390	L	0.45137	1.4	0.52099	D	0.999944	B;B	0.21753	0.049;0.06	B;B	0.25987	0.061;0.065	T	0.36553	-0.9743	10	0.26408	T	0.33	-17.7921	14.5002	0.67716	1.0:0.0:0.0:0.0	.	324;324	Q8TED4-2;Q8TED4	.;SPX2_HUMAN	S	324	ENSP00000384407:N324S;ENSP00000385126:N324S;ENSP00000298280:N324S;ENSP00000311833:N324S	ENSP00000298280:N324S	N	+	2	0	SLC37A2	124457435	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	8.761000	0.91691	2.098000	0.63641	0.459000	0.35465	AAT		0.577	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184	
SRPR	6734	broad.mit.edu	37	11	126137205	126137205	+	Missense_Mutation	SNP	G	G	A	rs558045090		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:126137205G>A	ENST00000332118.6	-	4	545	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	FOXRED1_ENST00000442061.2_5'Flank|SRPR_ENST00000530680.1_5'Flank|FOXRED1_ENST00000263578.5_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.R103C	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	131					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.R131C(1)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GTGGGAGCACGGATCTTACTG	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		19003	0.001		0.0	False		,,,				2504	0.0				p.R103C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C307T	11						.						137.0	134.0	135.0					11																	126137205		2201	4298	6499	125642415	SO:0001583	missense	6734	exon3			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.391C>T	11.37:g.126137205G>A	ENSP00000328023:p.Arg131Cys		125642415	NM_001177842	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395232	0.42512	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	4.92	4.92	0.64577	Signal recognition particle receptor, alpha subunit, N-terminal (1);	0.054376	0.64402	D	0.000001	T	0.67449	0.2894	M	0.67953	2.075	0.80722	D	1	B;B	0.25850	0.125;0.136	B;B	0.24269	0.052;0.052	T	0.69075	-0.5241	9	0.72032	D	0.01	-7.5361	18.3148	0.90217	0.0:0.0:1.0:0.0	.	103;131	E9PJS4;P08240	.;SRPR_HUMAN	C	131;103	.	ENSP00000328023:R131C	R	-	1	0	SRPR	125642415	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	4.960000	0.63673	2.546000	0.85860	0.305000	0.20034	CGT		0.448	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139	
ARHGAP32	9743	broad.mit.edu	37	11	128840469	128840469	+	Missense_Mutation	SNP	G	G	A	rs142674734		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:128840469G>A	ENST00000310343.9	-	22	4596	c.4597C>T	c.(4597-4599)Cgt>Tgt	p.R1533C	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1184C|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1184C	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1533	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.R1184C(1)|p.R1533C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTGTTATAACGAAGACCCATG	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		19697	0.0		0.001	False		,,,				2504	0.0				p.R1184C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3550T	11						.	G	CYS/ARG,CYS/ARG	0,4402		0,0,2201	81.0	73.0	75.0		4597,3550	5.8	0.5	11	dbSNP_134	75	2,8592	2.2+/-6.3	0,2,4295	no	missense,missense	ARHGAP32	NM_001142685.1,NM_014715.3	180,180	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1533/2088,1184/1739	128840469	2,12994	2201	4297	6498	128345679	SO:0001583	missense	9743	exon13			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4597C>T	11.37:g.128840469G>A	ENSP00000310561:p.Arg1533Cys		128345679	NM_014715	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569346	0.45798	0.0	2.33E-4	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.15952	2.42;2.38;2.38	5.75	5.75	0.90469	.	0.187703	0.47455	D	0.000228	T	0.33469	0.0864	M	0.66939	2.045	0.19575	N	0.999967	D	0.89917	1.0	P	0.60609	0.877	T	0.30592	-0.9973	10	0.87932	D	0	.	9.0189	0.36186	0.0732:0.0:0.7784:0.1484	.	1533	A7KAX9	RHG32_HUMAN	C	1533;1184;1184	ENSP00000310561:R1533C;ENSP00000376425:R1184C;ENSP00000432862:R1184C	ENSP00000310561:R1533C	R	-	1	0	ARHGAP32	128345679	0.996000	0.38824	0.547000	0.28179	0.942000	0.58702	3.756000	0.55205	2.719000	0.93026	0.655000	0.94253	CGT		0.542	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
OSBPL5	114879	broad.mit.edu	37	11	3123491	3123491	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:3123491G>A	ENST00000263650.7	-	12	1506	c.1347C>T	c.(1345-1347)aaC>aaT	p.N449N	OSBPL5_ENST00000542243.1_Silent_p.N80N|OSBPL5_ENST00000348039.5_Silent_p.N381N|OSBPL5_ENST00000389989.3_Silent_p.N381N|OSBPL5_ENST00000525498.1_Silent_p.N360N	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	449					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)	p.N449N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCAGGATGGGGTTGTACGGCT	0.587																																					p.N381N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1143T	11						.						59.0	51.0	53.0					11																	3123491		2201	4298	6499	3080067	SO:0001819	synonymous_variant	114879	exon11			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1347C>T	11.37:g.3123491G>A			3080067	NM_145638	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	37	CCDS31344.1																																																																																				0.587	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2		
ZNF195	7748	broad.mit.edu	37	11	3380754	3380754	+	Missense_Mutation	SNP	G	G	A	rs559329436		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:3380754G>A	ENST00000399602.4	-	6	1610	c.1484C>T	c.(1483-1485)aCg>aTg	p.T495M	ZNF195_ENST00000354599.6_Missense_Mutation_p.T423M|ZNF195_ENST00000005082.9_Missense_Mutation_p.T472M|ZNF195_ENST00000343338.7_Missense_Mutation_p.T427M|ZNF195_ENST00000429541.2_Missense_Mutation_p.T427M|ZNF195_ENST00000526601.1_Missense_Mutation_p.T476M|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	495					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.T423M(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTCTTCACACGTGTAGGGTTT	0.423													g|||	1	0.000199681	0.0008	0.0	5008	,	,		23265	0.0		0.0	False		,,,				2504	0.0				p.T423M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1268T	11						.						152.0	152.0	152.0					11																	3380754		2024	4213	6237	3337330	SO:0001583	missense	7748	exon4				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1484C>T	11.37:g.3380754G>A	ENSP00000382511:p.Thr495Met		3337330	NM_007152	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	g	15.18	2.758286	0.49468	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16;3.16	1.27	-2.53	0.06326	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13841	0.0335	L	0.39692	1.235	0.09310	N	1	D;D;D;D;D;D	0.76494	0.994;0.994;0.998;0.993;0.999;0.993	D;P;P;B;D;B	0.72625	0.978;0.501;0.865;0.368;0.917;0.368	T	0.13045	-1.0524	9	0.62326	D	0.03	.	3.1338	0.06433	0.1966:0.0:0.4297:0.3736	.	476;354;472;427;495;423	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	M	423;495;427;427;472;476	ENSP00000346613:T423M;ENSP00000382511:T495M;ENSP00000344483:T427M;ENSP00000387998:T427M;ENSP00000005082:T472M;ENSP00000435828:T476M	ENSP00000005082:T472M	T	-	2	0	ZNF195	3337330	0.000000	0.05858	0.000000	0.03702	0.916000	0.54674	-1.025000	0.03600	-0.985000	0.03503	0.305000	0.20034	ACG		0.423	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2		
PGAP2	27315	broad.mit.edu	37	11	3845167	3845167	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:3845167C>T	ENST00000463452.2	+	3	303	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	PGAP2_ENST00000278243.4_Missense_Mutation_p.R135C|PGAP2_ENST00000396991.2_Missense_Mutation_p.R135C|PGAP2_ENST00000465307.2_Missense_Mutation_p.A77V|PGAP2_ENST00000493547.2_Missense_Mutation_p.R74C|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000396986.2_Missense_Mutation_p.R131C|PGAP2_ENST00000300730.6_Missense_Mutation_p.R131C|PGAP2_ENST00000396993.4_Missense_Mutation_p.A27V|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000496834.2_5'UTR	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	74					GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.R135C(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						GGTGCCCCAGCGCTACGTGTG	0.647																																					p.R135C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C403T	11						.						72.0	71.0	71.0					11																	3845167		2201	4298	6499	3801743	SO:0001583	missense	27315	exon4			AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.220C>T	11.37:g.3845167C>T	ENSP00000435223:p.Arg74Cys		3801743	NM_014489	E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	ENST00000463452.2	37	CCDS58112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.698868|2.698868	0.48307|0.48307	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000396993;ENST00000532523;ENST00000465307|ENST00000396986;ENST00000300730;ENST00000396991;ENST00000464261;ENST00000493547;ENST00000278243;ENST00000463452;ENST00000469307	.|T;T;T;T;T;T;T;T	.|0.48836	.|0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.86|5.86	4.92|4.92	0.64577|0.64577	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65026|0.65026	0.2652|0.2652	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	D;P|P;P;B;D;P	0.56521|0.89917	0.976;0.783|0.566;0.501;0.424;1.0;0.501	B;B|B;B;B;D;B	0.42319|0.69307	0.383;0.134|0.099;0.086;0.099;0.963;0.086	T|T	0.67469|0.67469	-0.5663|-0.5663	8|10	0.87932|0.87932	D|D	0|0	-15.3272|-15.3272	12.419|12.419	0.55510|0.55510	0.1667:0.8332:0.0:0.0|0.1667:0.8332:0.0:0.0	.|.	77;27|131;74;135;74;74	B7Z2X5;A8MZF5|A8MYS5;Q9UHJ9-3;Q9UHJ9;E9PJG5;Q9UHJ9-2	.;.|.;.;PGAP2_HUMAN;.;.	V|C	27;92;77|131;131;135;104;74;135;74;74	.|ENSP00000380183:R131C;ENSP00000300730:R131C;ENSP00000380188:R135C;ENSP00000434088:R104C;ENSP00000431851:R74C;ENSP00000278243:R135C;ENSP00000435223:R74C;ENSP00000434507:R74C	ENSP00000380190:A27V|ENSP00000278243:R135C	A|R	+|+	2|1	0|0	PGAP2|PGAP2	3801743|3801743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.540000|2.540000	0.45727|0.45727	2.766000|2.766000	0.95052|0.95052	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.647	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1		
OR51S1	119692	broad.mit.edu	37	11	4870128	4870128	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:4870128G>A	ENST00000322101.2	-	1	386	c.311C>T	c.(310-312)gCc>gTc	p.A104V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A104V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAGAAGGCAGGCTGAGGCAGG	0.537																																					p.A104V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C311T	11						.						108.0	95.0	99.0					11																	4870128		2201	4298	6499	4826704	SO:0001583	missense	119692	exon1			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.311C>T	11.37:g.4870128G>A	ENSP00000322754:p.Ala104Val		4826704	NM_001004758	B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664490	0.47572	.	.	ENSG00000176922	ENST00000322101	T	0.03124	4.04	4.65	2.79	0.32731	GPCR, rhodopsin-like superfamily (1);	0.179400	0.26883	N	0.022004	T	0.05090	0.0136	L	0.58354	1.805	0.22591	N	0.998951	B	0.18968	0.032	B	0.21917	0.037	T	0.28427	-1.0044	10	0.62326	D	0.03	-4.9591	7.4092	0.27007	0.1982:0.0:0.8018:0.0	.	104	Q8NGJ8	O51S1_HUMAN	V	104	ENSP00000322754:A104V	ENSP00000322754:A104V	A	-	2	0	OR51S1	4826704	0.001000	0.12720	0.985000	0.45067	0.897000	0.52465	0.114000	0.15520	0.582000	0.29556	-0.222000	0.12452	GCC		0.537	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758	
OR51G2	81282	broad.mit.edu	37	11	4936383	4936383	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:4936383A>C	ENST00000322013.3	-	1	539	c.511T>G	c.(511-513)Ttc>Gtc	p.F171V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F171V(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAATAGGGGAATCTTTTGAGC	0.468																																					p.F171V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T511G	11						.						83.0	85.0	85.0					11																	4936383		2201	4298	6499	4892959	SO:0001583	missense	81282	exon1			AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.511T>G	11.37:g.4936383A>C	ENSP00000322593:p.Phe171Val		4892959	NM_001005238	Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.156392	0.57259	.	.	ENSG00000176893	ENST00000322013	T	0.00231	8.49	5.58	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	0.123056	0.37304	N	0.002141	T	0.00271	0.0008	L	0.33245	0.995	0.21762	N	0.999552	D	0.89917	1.0	D	0.91635	0.999	T	0.53201	-0.8472	10	0.66056	D	0.02	.	4.0603	0.09836	0.6838:0.0:0.1643:0.1519	.	171	Q8NGK0	O51G2_HUMAN	V	171	ENSP00000322593:F171V	ENSP00000322593:F171V	F	-	1	0	OR51G2	4892959	0.004000	0.15560	0.783000	0.31826	0.949000	0.60115	0.225000	0.17757	1.129000	0.42072	0.533000	0.62120	TTC		0.468	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238	
UBQLN3	50613	broad.mit.edu	37	11	5530484	5530484	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:5530484C>T	ENST00000311659.4	-	2	452	c.305G>A	c.(304-306)tGc>tAc	p.C102Y	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	102								p.C102Y(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAGCTGGGCACTCATTGCC	0.592																																					p.C102Y	Ovarian(72;684 1260 12332 41642 52180)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G305A	11						.						72.0	68.0	69.0					11																	5530484		2201	4297	6498	5487060	SO:0001583	missense	50613	exon2			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.305G>A	11.37:g.5530484C>T	ENSP00000347997:p.Cys102Tyr		5487060	NM_017481	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351755	0.24512	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.51325	1.28;0.71	5.3	3.39	0.38822	.	0.554792	0.16540	N	0.209966	T	0.49881	0.1583	M	0.68317	2.08	0.09310	N	0.999997	B	0.33198	0.401	B	0.38428	0.273	T	0.42749	-0.9433	10	0.44086	T	0.13	-34.3468	12.4819	0.55847	0.0:0.6776:0.3224:0.0	.	102	Q9H347	UBQL3_HUMAN	Y	102	ENSP00000347997:C102Y;ENSP00000412561:C102Y	ENSP00000347997:C102Y	C	-	2	0	UBQLN3	5487060	0.001000	0.12720	0.749000	0.31150	0.838000	0.47535	-0.025000	0.12413	0.700000	0.31782	0.484000	0.47621	TGC		0.592	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
DNHD1	144132	broad.mit.edu	37	11	6591491	6591491	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:6591491delG	ENST00000527990.2	+	39	12970	c.12970delG	c.(12970-12972)gggfs	p.G4325fs	DNHD1_ENST00000254579.6_Frame_Shift_Del_p.G4325fs			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4325					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.G4325fs*12(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGTTTTCTACGGGGGTCCTCT	0.562																																					p.G4324fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.12970delG	11						.						27.0	30.0	29.0					11																	6591491		1896	4106	6002	6548067	SO:0001589	frameshift_variant	144132	exon41			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12970delG	11.37:g.6591491delG	ENSP00000436180:p.Gly4325fs		6548067	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Frame_Shift_Del	DEL	ENST00000527990.2	37	CCDS44532.1																																																																																				0.562	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
DCHS1	8642	broad.mit.edu	37	11	6644734	6644734	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:6644734C>T	ENST00000299441.3	-	21	8584	c.8173G>A	c.(8173-8175)Gtg>Atg	p.V2725M	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2725	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2725M(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGTGGTCACGAGAGTGCCT	0.587																																					p.V2725M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8173A	11						.						46.0	41.0	43.0					11																	6644734		2200	4296	6496	6601310	SO:0001583	missense	8642	exon21			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8173G>A	11.37:g.6644734C>T	ENSP00000299441:p.Val2725Met		6601310	NM_003737	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803217	0.50315	.	.	ENSG00000166341	ENST00000299441	T	0.59772	0.24	5.41	4.49	0.54785	Cadherin (3);Cadherin-like (1);	0.000000	0.35739	N	0.003019	T	0.69984	0.3172	M	0.75085	2.285	0.46725	D	0.999174	D	0.69078	0.997	D	0.63113	0.911	T	0.72414	-0.4301	10	0.62326	D	0.03	.	8.5815	0.33632	0.0:0.7654:0.1538:0.0808	.	2725	Q96JQ0	PCD16_HUMAN	M	2725	ENSP00000299441:V2725M	ENSP00000299441:V2725M	V	-	1	0	DCHS1	6601310	0.954000	0.32549	0.998000	0.56505	0.924000	0.55760	2.068000	0.41471	1.521000	0.48983	0.655000	0.94253	GTG		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
OR10A2	341276	broad.mit.edu	37	11	6891618	6891618	+	Silent	SNP	C	C	T	rs61737577		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:6891618C>T	ENST00000307322.4	+	1	695	c.633C>T	c.(631-633)gcC>gcT	p.A211A		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A211A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTGCTGCTGCCATCCTCAAGA	0.448																																					p.A211A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C633T	11						.						277.0	220.0	239.0					11																	6891618		2201	4296	6497	6848194	SO:0001819	synonymous_variant	341276	exon1			BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.633C>T	11.37:g.6891618C>T			6848194	NM_001004460	B2RNL9|Q6IFG9	Silent	SNP	ENST00000307322.4	37	CCDS31415.1																																																																																				0.448	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460	
BTBD10	84280	broad.mit.edu	37	11	13466592	13466592	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:13466592C>T	ENST00000278174.5	-	2	325	c.80G>A	c.(79-81)cGt>cAt	p.R27H	BTBD10_ENST00000528120.1_Intron	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	27						nucleus (GO:0005634)		p.R27H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		ATAAAGTTTACGAGGTCTACT	0.408																																					p.R27H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G80A	11						.						157.0	160.0	159.0					11																	13466592		2200	4294	6494	13423168	SO:0001583	missense	84280	exon2			AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.80G>A	11.37:g.13466592C>T	ENSP00000278174:p.Arg27His		13423168	NM_032320	B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010398	0.75046	.	.	ENSG00000148925	ENST00000278174;ENST00000529708;ENST00000526841	T	0.37058	1.22	5.57	5.57	0.84162	.	0.640975	0.15759	N	0.246022	T	0.48714	0.1515	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.52961	-0.8505	10	0.72032	D	0.01	1.1724	19.1455	0.93463	0.0:1.0:0.0:0.0	.	27	Q9BSF8	BTBDA_HUMAN	H	27	ENSP00000278174:R27H	ENSP00000278174:R27H	R	-	2	0	BTBD10	13423168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.504000	0.73704	2.612000	0.88384	0.655000	0.94253	CGT		0.408	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320	
MRGPRX2	117194	broad.mit.edu	37	11	19076975	19076975	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:19076975C>T	ENST00000329773.2	-	2	1062	c.975G>A	c.(973-975)tcG>tcA	p.S325S		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	325					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)	p.S325S(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GACTGCTTCTCGACATCTCCG	0.532																																					p.S325S	GBM(198;1966 2199 4849 37227 49954)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G975A	11						.						60.0	61.0	61.0					11																	19076975		2199	4293	6492	19033551	SO:0001819	synonymous_variant	117194	exon2				CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.975G>A	11.37:g.19076975C>T			19033551	NM_054030	B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	CCDS7847.1																																																																																				0.532	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030	
PAX6	5080	broad.mit.edu	37	11	31823109	31823109	+	Splice_Site	SNP	G	G	A	rs121907928		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:31823109G>A	ENST00000379132.3	-	5	637	c.357C>T	c.(355-357)agC>agT	p.S119S	PAX6_ENST00000241001.8_Splice_Site_p.S119S|PAX6_ENST00000379123.5_Splice_Site_p.S119S|PAX6_ENST00000419022.1_Splice_Site_p.S133S|PAX6_ENST00000379115.4_Splice_Site_p.S133S|PAX6_ENST00000533156.1_5'Flank|PAX6_ENST00000379107.2_Splice_Site_p.S133S|PAX6_ENST00000379129.2_Splice_Site_p.S133S|PAX6_ENST00000379111.2_Splice_Site_p.S119S			P26367	PAX6_HUMAN	paired box 6	119	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		S -> R (in AN). {ECO:0000269|PubMed:11553050, ECO:0000269|Ref.25}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.S133S(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					ATGAACTTACGCTTGGTATGT	0.512									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																												p.S119S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C357T	11	GRCh37	CD082176|CI992573|CM013024|CM993965	PAX6	D|I|M	rs121907928	.						72.0	69.0	70.0					11																	31823109		2202	4299	6501	31779685	SO:0001630	splice_region_variant	5080	exon6	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.357+1C>T	11.37:g.31823109G>A			31779685	NM_001127612	Q6N006|Q99413	Silent	SNP	ENST00000379132.3	37	CCDS31451.1																																																																																				0.512	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604	Silent
WT1	7490	broad.mit.edu	37	11	32450156	32450156	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:32450156G>A	ENST00000379079.2	-	2	293	c.20C>T	c.(19-21)aCg>aTg	p.T7M	WT1_ENST00000530998.1_Missense_Mutation_p.T7M|WT1_ENST00000332351.3_Missense_Mutation_p.T219M|WT1_ENST00000448076.3_Missense_Mutation_p.T219M	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	151					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T151M(1)|p.?(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GAAGGTGACCGTGCTGTAACC	0.662			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																												p.T7M		yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|kidney(1)	c.C20T	11						.						72.0	55.0	61.0					11																	32450156		2202	4299	6501	32406732	SO:0001583	missense	7490	exon2	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.20C>T	11.37:g.32450156G>A	ENSP00000368370:p.Thr7Met		32406732	NM_001198551	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459260	0.84317	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.45	5.45	0.79879	Wilm&apos (1);s tumour protein, N-terminal (1);	0.078421	0.49305	U	0.000144	D	0.86598	0.5971	L	0.34521	1.04	0.44432	D	0.997352	D;P;D;D;D	0.64830	0.994;0.868;0.989;0.961;0.988	P;P;P;P;P	0.57283	0.763;0.696;0.763;0.751;0.817	D	0.87789	0.2617	10	0.72032	D	0.01	.	16.6448	0.85174	0.0:0.1296:0.8704:0.0	.	224;151;224;7;7	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	M	7;219;7;219;219	ENSP00000368370:T7M;ENSP00000331327:T219M;ENSP00000435307:T7M;ENSP00000415516:T219M;ENSP00000413452:T219M	ENSP00000331327:T219M	T	-	2	0	WT1	32406732	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.130000	0.77235	2.744000	0.94065	0.561000	0.74099	ACG		0.662	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378	
LDLRAD3	143458	broad.mit.edu	37	11	36057709	36057709	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:36057709T>C	ENST00000315571.5	+	2	124	c.103T>C	c.(103-105)Ttc>Ctc	p.F35L	LDLRAD3_ENST00000524419.1_Intron|LDLRAD3_ENST00000528989.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	35	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.F35L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				ACCAGGCAACTTCATGTGCAG	0.597																																					p.F35L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T103C	11						.						108.0	96.0	100.0					11																	36057709		2202	4298	6500	36014285	SO:0001583	missense	143458	exon2			AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.103T>C	11.37:g.36057709T>C	ENSP00000318607:p.Phe35Leu		36014285	NM_174902	B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	ENST00000315571.5	37	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.013228	0.93346	.	.	ENSG00000179241	ENST00000545142;ENST00000315571	D	0.98889	-5.21	5.1	5.1	0.69264	.	0.055518	0.64402	D	0.000001	D	0.98915	0.9632	M	0.75150	2.29	0.58432	D	0.999996	D	0.57257	0.979	D	0.74023	0.982	D	0.99787	1.1030	10	0.72032	D	0.01	.	14.3685	0.66823	0.0:0.0:0.0:1.0	.	35	Q86YD5	LRAD3_HUMAN	L	35	ENSP00000318607:F35L	ENSP00000318607:F35L	F	+	1	0	LDLRAD3	36014285	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.352000	0.79404	2.052000	0.61016	0.533000	0.62120	TTC		0.597	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902	
PRR5L	79899	broad.mit.edu	37	11	36484051	36484051	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:36484051C>T	ENST00000378867.3	+	10	1227	c.872C>T	c.(871-873)aCg>aTg	p.T291M	PRR5L_ENST00000530639.1_Missense_Mutation_p.T291M|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.T218M	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	291					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)	p.T291M(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CGGCGGCACACGGTGGCCAAT	0.642																																					p.T291M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C872T	11						.						37.0	36.0	36.0					11																	36484051		2202	4298	6500	36440627	SO:0001583	missense	79899	exon10				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.872C>T	11.37:g.36484051C>T	ENSP00000368144:p.Thr291Met		36440627	NM_024841	A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825070	0.90955	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	D;D;D	0.89270	-2.49;-2.49;-2.49	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.93983	0.8073	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94483	0.7695	10	0.87932	D	0	-12.0987	18.8377	0.92169	0.0:1.0:0.0:0.0	.	163;291	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	M	291;218;291	ENSP00000435050:T291M;ENSP00000310103:T218M;ENSP00000368144:T291M	ENSP00000310103:T218M	T	+	2	0	PRR5L	36440627	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.142000	0.77339	2.451000	0.82905	0.555000	0.69702	ACG		0.642	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841	
LRRC4C	57689	broad.mit.edu	37	11	40136090	40136090	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:40136090G>T	ENST00000278198.2	-	2	3716	c.1753C>A	c.(1753-1755)Ctg>Atg	p.L585M	LRRC4C_ENST00000530763.1_Missense_Mutation_p.L585M|LRRC4C_ENST00000527150.1_Missense_Mutation_p.L585M|LRRC4C_ENST00000528697.1_Missense_Mutation_p.L585M			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	585					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.L585M(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)				GGCATGGGCAGGTGGCTTTCC	0.438																																					p.L585M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1753A	11						.						226.0	219.0	221.0					11																	40136090		2203	4300	6503	40092666	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.1753C>A	11.37:g.40136090G>T	ENSP00000278198:p.Leu585Met		40092666	NM_020929	A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	8.229	0.804314	0.16467	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	6.17	5.17	0.71159	.	0.000000	0.64402	D	0.000003	T	0.16642	0.0400	L	0.34521	1.04	0.46521	D	0.999088	P	0.38048	0.616	B	0.29598	0.104	T	0.03175	-1.1064	10	0.33141	T	0.24	.	4.7468	0.13042	0.2538:0.0:0.7462:0.0	.	585	Q9HCJ2	LRC4C_HUMAN	M	585	ENSP00000278198:L585M;ENSP00000436976:L585M;ENSP00000437132:L585M;ENSP00000434761:L585M	ENSP00000278198:L585M	L	-	1	2	LRRC4C	40092666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.457000	0.60088	2.941000	0.99782	0.655000	0.94253	CTG		0.438	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
DGKZ	8525	broad.mit.edu	37	11	46393076	46393076	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:46393076G>A	ENST00000454345.1	+	9	1371	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	DGKZ_ENST00000421244.2_Missense_Mutation_p.E228K|DGKZ_ENST00000456247.2_Missense_Mutation_p.E227K|DGKZ_ENST00000343674.6_Missense_Mutation_p.E244K|DGKZ_ENST00000395574.3_Missense_Mutation_p.E194K|DGKZ_ENST00000528615.1_Missense_Mutation_p.E6K|DGKZ_ENST00000532868.2_Missense_Mutation_p.E232K|DGKZ_ENST00000318201.8_Missense_Mutation_p.E205K|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Missense_Mutation_p.E228K	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	416					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)	p.E244K(1)|p.E416K(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCAGCAGATCGAGGAGCCGTG	0.672																																					p.E228K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G682A	11						.						26.0	31.0	29.0					11																	46393076		2202	4299	6501	46349652	SO:0001583	missense	8525	exon8			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1246G>A	11.37:g.46393076G>A	ENSP00000412178:p.Glu416Lys		46349652	NM_003646	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414306	0.96092	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	D;T;D;D;D;D;D;T;D	0.93307	-3.2;2.54;-3.2;-3.2;-3.2;-3.2;-3.2;2.67;-3.2	5.07	5.07	0.68467	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	L	0.52759	1.655	0.80722	D	1	P;D;D;D;D;D;D;D;P	0.89917	0.955;0.979;0.998;0.999;0.978;0.985;1.0;0.994;0.956	B;P;D;D;P;P;D;P;P	0.72338	0.284;0.663;0.92;0.971;0.832;0.63;0.977;0.876;0.663	D	0.94182	0.7433	10	0.33141	T	0.24	.	18.8612	0.92273	0.0:0.0:1.0:0.0	.	205;193;171;228;416;227;228;194;244	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	K	244;6;194;193;228;227;228;205;416	ENSP00000343065:E244K;ENSP00000434719:E6K;ENSP00000378941:E194K;ENSP00000436273:E193K;ENSP00000436291:E228K;ENSP00000395684:E227K;ENSP00000391021:E228K;ENSP00000320340:E205K;ENSP00000412178:E416K	ENSP00000320340:E205K	E	+	1	0	DGKZ	46349652	1.000000	0.71417	0.955000	0.39395	0.723000	0.41478	9.863000	0.99569	2.536000	0.85505	0.561000	0.74099	GAG		0.672	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540	
MYBPC3	4607	broad.mit.edu	37	11	47372961	47372961	+	Missense_Mutation	SNP	G	G	A	rs373638535		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:47372961G>A	ENST00000545968.1	-	2	175	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	MYBPC3_ENST00000399249.2_Missense_Mutation_p.R41C|MYBPC3_ENST00000256993.4_Missense_Mutation_p.R41C	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	41					cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R41C(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CGCTGCCAGCGCACCTTCACT	0.642																																					p.R41C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C121T	11						.						33.0	37.0	36.0					11																	47372961		2188	4279	6467	47329537	SO:0001583	missense	4607	exon2			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.121C>T	11.37:g.47372961G>A	ENSP00000442795:p.Arg41Cys		47329537	NM_000256	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780744	0.70222	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.68025	-0.3;-0.3;-0.3	4.27	4.27	0.50696	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71358	0.3330	M	0.63428	1.95	0.48975	D	0.999731	D	0.65815	0.995	P	0.54210	0.745	T	0.74559	-0.3625	9	0.72032	D	0.01	.	10.1606	0.42849	0.0:0.0:0.6467:0.3533	.	41	Q14896	MYPC3_HUMAN	C	41	ENSP00000442795:R41C;ENSP00000382193:R41C;ENSP00000256993:R41C	ENSP00000256993:R41C	R	-	1	0	MYBPC3	47329537	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	5.285000	0.65633	2.218000	0.71995	0.467000	0.42956	CGC		0.642	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3		
SPI1	6688	broad.mit.edu	37	11	47381437	47381437	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:47381437delG	ENST00000378538.3	-	3	519	c.297delC	c.(295-297)cccfs	p.P99fs	SPI1_ENST00000533030.1_Intron|SPI1_ENST00000227163.4_Frame_Shift_Del_p.P100fs|SPI1_ENST00000533968.1_Frame_Shift_Del_p.P99fs	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	99					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M94fs*86(1)		central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GTGGCACCATGGGGGTATCGA	0.672																																					p.P99fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.297delC	11						.						71.0	62.0	65.0					11																	47381437		2201	4298	6499	47338013	SO:0001589	frameshift_variant	6688	exon3			X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.297delC	11.37:g.47381437delG	ENSP00000367799:p.Pro99fs		47338013	NM_003120		Frame_Shift_Del	DEL	ENST00000378538.3	37	CCDS7933.2																																																																																				0.672	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120	
OR5M10	390167	broad.mit.edu	37	11	56344660	56344660	+	Missense_Mutation	SNP	C	C	T	rs566095437		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:56344660C>T	ENST00000526812.2	-	1	603	c.538G>A	c.(538-540)Gct>Act	p.A180T		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A180T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GGAGGATCAGCGCAGTAGAAA	0.463																																					p.A180T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G538A	11						.						80.0	78.0	79.0					11																	56344660		1951	4122	6073	56101236	SO:0001583	missense	390167	exon1			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.538G>A	11.37:g.56344660C>T	ENSP00000436004:p.Ala180Thr		56101236	NM_001004741	B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825281	0.50739	.	.	ENSG00000254834	ENST00000526812	T	0.00099	8.73	4.04	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	L	0.54323	1.7	0.33657	D	0.609201	D	0.54047	0.964	P	0.48921	0.595	T	0.72981	-0.4126	9	0.72032	D	0.01	.	10.9012	0.47054	0.0:0.9054:0.0:0.0946	.	180	Q6IEU7	OR5MA_HUMAN	T	180	ENSP00000436004:A180T	ENSP00000436004:A180T	A	-	1	0	OR5M10	56101236	1.000000	0.71417	0.852000	0.33557	0.172000	0.22775	2.640000	0.46579	1.041000	0.40125	0.632000	0.83419	GCT		0.463	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741	
OR6Q1	219952	broad.mit.edu	37	11	57799254	57799254	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:57799254T>A	ENST00000302622.3	+	1	853	c.830T>A	c.(829-831)gTg>gAg	p.V277E	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V277E(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TTCAACAAGGTGGTATCTGTC	0.483																																					p.V277E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T830A	11						.						153.0	142.0	146.0					11																	57799254		2201	4296	6497	57555830	SO:0001583	missense	219952	exon1			AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.830T>A	11.37:g.57799254T>A	ENSP00000307734:p.Val277Glu		57555830	NM_001005186	B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609470	0.66558	.	.	ENSG00000172381	ENST00000302622	T	0.00289	8.28	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34802	N	0.003661	T	0.00784	0.0026	M	0.88906	2.99	0.20926	N	0.99982	D	0.67145	0.996	D	0.71184	0.972	T	0.27839	-1.0062	10	0.87932	D	0	.	13.6468	0.62286	0.0:0.0:0.0:1.0	.	277	Q8NGQ2	OR6Q1_HUMAN	E	277	ENSP00000307734:V277E	ENSP00000307734:V277E	V	+	2	0	OR6Q1	57555830	0.527000	0.26306	1.000000	0.80357	0.957000	0.61999	4.358000	0.59442	1.860000	0.53959	0.533000	0.62120	GTG		0.483	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186	
MS4A14	84689	broad.mit.edu	37	11	60182929	60182929	+	Missense_Mutation	SNP	C	C	T	rs550060785		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:60182929C>T	ENST00000300187.6	+	5	765	c.488C>T	c.(487-489)tCg>tTg	p.S163L	MS4A14_ENST00000531787.1_Missense_Mutation_p.S51L|MS4A14_ENST00000395005.2_Missense_Mutation_p.S146L|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.S196L	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	163						integral component of membrane (GO:0016021)		p.S163L(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						TTCTTGCCTTCGGATGTTACT	0.323													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19155	0.0		0.0	False		,,,				2504	0.0				p.S163L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C488T	11						.						92.0	91.0	92.0					11																	60182929		2202	4299	6501	59939505	SO:0001583	missense	84689	exon5			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.488C>T	11.37:g.60182929C>T	ENSP00000300187:p.Ser163Leu		59939505	NM_032597	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973452	0.53614	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.33438	1.43;2.61;1.41;2.96	3.73	-0.343	0.12632	.	7.709870	0.00357	N	0.000029	T	0.28333	0.0700	M	0.69823	2.125	0.39608	D	0.969837	P;P	0.45428	0.828;0.858	B;B	0.33339	0.1;0.162	T	0.45071	-0.9286	10	0.87932	D	0	-0.6102	2.9607	0.05891	0.1947:0.4764:0.0:0.3289	.	146;163	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	L	51;163;146;196	ENSP00000437222:S51L;ENSP00000300187:S163L;ENSP00000378453:S146L;ENSP00000433761:S196L	ENSP00000300187:S163L	S	+	2	0	MS4A14	59939505	0.089000	0.21612	0.612000	0.29024	0.714000	0.41099	0.121000	0.15667	-0.053000	0.13289	0.650000	0.86243	TCG		0.323	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
DDB1	1642	broad.mit.edu	37	11	61070162	61070162	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:61070162C>T	ENST00000301764.7	-	24	3401	c.3004G>A	c.(3004-3006)Gag>Aag	p.E1002K	DDB1_ENST00000451943.2_5'UTR|DDB1_ENST00000538470.1_Missense_Mutation_p.E49K|DDB1_ENST00000450997.2_Missense_Mutation_p.E313K	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1002	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.E1002K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TTGACAAACTCGCCCAGGTGG	0.567								Nucleotide excision repair (NER)																													p.E1002K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3004A	11						.						113.0	116.0	115.0					11																	61070162		2203	4299	6502	60826738	SO:0001583	missense	1642	exon24			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3004G>A	11.37:g.61070162C>T	ENSP00000301764:p.Glu1002Lys		60826738	NM_001923	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	36	5.649581	0.96714	.	.	ENSG00000167986	ENST00000301764;ENST00000450997;ENST00000538470;ENST00000539332	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.03	5.03	0.67393	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71434	0.3339	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.986	T	0.76271	-0.3020	10	0.72032	D	0.01	-20.5081	18.3488	0.90330	0.0:1.0:0.0:0.0	.	313;1002	B4DG00;Q16531	.;DDB1_HUMAN	K	1002;313;49;168	ENSP00000301764:E1002K;ENSP00000388705:E313K;ENSP00000441522:E49K;ENSP00000439787:E168K	ENSP00000301764:E1002K	E	-	1	0	DDB1	60826738	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.772000	0.85439	2.336000	0.79503	0.561000	0.74099	GAG		0.567	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	
DAK	26007	broad.mit.edu	37	11	61111695	61111695	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:61111695G>A	ENST00000394900.3	+	13	1419	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	397	DhaL. {ECO:0000255|PROSITE- ProRule:PRU00813}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)	p.R397Q(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GCCCTGGACCGGGCTGCTGGT	0.632																																					p.R397Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1190A	11						.						58.0	56.0	57.0					11																	61111695		2203	4299	6502	60868271	SO:0001583	missense	26007	exon13				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1190G>A	11.37:g.61111695G>A	ENSP00000378360:p.Arg397Gln		60868271	NM_015533	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023043	0.93462	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.29917	1.56;1.55	6.08	6.08	0.98989	Dak phosphatase (2);	0.050022	0.85682	D	0.000000	T	0.48768	0.1518	L	0.42581	1.335	0.80722	D	1	D;P	0.89917	1.0;0.522	D;B	0.69307	0.963;0.056	T	0.17837	-1.0356	10	0.42905	T	0.14	-21.2664	18.4365	0.90648	0.0:0.0:1.0:0.0	.	397;397	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	Q	397;396	ENSP00000378360:R397Q;ENSP00000432539:R396Q	ENSP00000378360:R397Q	R	+	2	0	DAK	60868271	1.000000	0.71417	0.997000	0.53966	0.344000	0.29017	9.045000	0.93812	2.894000	0.99253	0.655000	0.94253	CGG		0.632	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533	
CPSF7	79869	broad.mit.edu	37	11	61188903	61188903	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:61188903G>A	ENST00000394888.4	-	3	404	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	CPSF7_ENST00000340437.4_Missense_Mutation_p.R121C|CPSF7_ENST00000448745.1_Missense_Mutation_p.R78C|CPSF7_ENST00000439958.3_Missense_Mutation_p.R78C|CPSF7_ENST00000541963.1_Missense_Mutation_p.R78C	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	78					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R78C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CGTCTATTACGCAGGCCACTG	0.562																																					p.R78C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C232T	11						.						146.0	125.0	132.0					11																	61188903		2202	4299	6501	60945479	SO:0001583	missense	79869	exon3				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.232C>T	11.37:g.61188903G>A	ENSP00000378352:p.Arg78Cys		60945479	NM_001136040	B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464946	0.63513	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585;ENST00000413232;ENST00000541963;ENST00000450000;ENST00000449811;ENST00000413184	T;T;T	0.43688	0.94;0.94;0.94	5.68	4.75	0.60458	Nucleotide-binding, alpha-beta plait (1);	0.141721	0.50627	D	0.000116	T	0.56381	0.1981	L	0.43152	1.355	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;P;D;D	0.83275	0.996;0.875;0.994;0.994	T	0.54589	-0.8271	10	0.38643	T	0.18	.	15.5245	0.75890	0.0:0.0:0.8606:0.1394	.	78;78;121;78	F5H1W4;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	C	121;78;78;78;78;78;78;78;78;78;78;78	ENSP00000391359:R78C;ENSP00000392400:R78C;ENSP00000414295:R78C	ENSP00000345412:R121C	R	-	1	0	CPSF7	60945479	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	5.329000	0.65892	1.360000	0.45960	0.650000	0.86243	CGT		0.562	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811	
MYRF	745	broad.mit.edu	37	11	61539074	61539074	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:61539074C>T	ENST00000278836.5	+	6	939	c.843C>T	c.(841-843)acC>acT	p.T281T	MYRF_ENST00000265460.5_Silent_p.T272T|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_5'Flank	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	281	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T272T(1)									AGCCTGGGACCGTGACAGCCC	0.632																																					p.T272T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C816T	11						.						88.0	100.0	96.0					11																	61539074		2202	4299	6501	61295650	SO:0001819	synonymous_variant	745	exon6				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.843C>T	11.37:g.61539074C>T			61295650	NM_013279	O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	CCDS44622.1																																																																																				0.632	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279	
FADS3	3995	broad.mit.edu	37	11	61643644	61643644	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:61643644C>T	ENST00000278829.2	-	10	1251	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	FADS3_ENST00000525588.1_Missense_Mutation_p.V339M|FADS3_ENST00000527697.1_Missense_Mutation_p.V243M|FADS3_ENST00000540820.1_3'UTR	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	367					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)	p.V367M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGGCTCCACGTTGCAGGTG	0.667																																					p.V367M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1099A	11						.						32.0	31.0	31.0					11																	61643644		2199	4295	6494	61400220	SO:0001583	missense	3995	exon10				CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.1099G>A	11.37:g.61643644C>T	ENSP00000278829:p.Val367Met		61400220	NM_021727	O60426	Missense_Mutation	SNP	ENST00000278829.2	37	CCDS8013.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.91|16.91	3.252988|3.252988	0.59212|0.59212	.|.	.|.	ENSG00000221968|ENSG00000221968	ENST00000525094|ENST00000527697;ENST00000278829;ENST00000525588	.|T;T;T	.|0.18502	.|2.21;2.21;2.21	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Fatty acid desaturase, type 1 (1);	.|.	.|.	.|.	.|.	T|T	0.41419|0.41419	0.1158|0.1158	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74674	.|0.979;0.984	T|T	0.30387|0.30387	-0.9980|-0.9980	5|9	.|0.56958	.|D	.|0.05	-8.6162|-8.6162	10.941|10.941	0.47273|0.47273	0.0:0.9139:0.0:0.0861|0.0:0.9139:0.0:0.0861	.|.	.|243;367	.|E9PKP8;Q9Y5Q0	.|.;FADS3_HUMAN	H|M	37|243;367;339	.|ENSP00000431533:V243M;ENSP00000278829:V367M;ENSP00000432206:V339M	.|ENSP00000278829:V367M	R|V	-|-	2|1	0|0	FADS3|FADS3	61400220|61400220	0.843000|0.843000	0.29541|0.29541	1.000000|1.000000	0.80357|0.80357	0.513000|0.513000	0.34164|0.34164	0.870000|0.870000	0.28010|0.28010	2.442000|2.442000	0.82660|0.82660	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.667	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1		
INTS5	80789	broad.mit.edu	37	11	62414874	62414874	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:62414874C>T	ENST00000330574.2	-	2	2730	c.2678G>A	c.(2677-2679)cGc>cAc	p.R893H	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000540933.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	893					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.R893H(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GTCAGGGTGGCGAGAGGCTTC	0.647																																					p.R893H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2678A	11						.						64.0	68.0	67.0					11																	62414874		2202	4299	6501	62171450	SO:0001583	missense	80789	exon2			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2678G>A	11.37:g.62414874C>T	ENSP00000327889:p.Arg893His		62171450	NM_030628	Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326968	0.81690	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	L	0.50333	1.59	0.49130	D	0.99975	D	0.89917	1.0	D	0.76071	0.987	T	0.76366	-0.2985	9	0.87932	D	0	.	17.8981	0.88895	0.0:1.0:0.0:0.0	.	893	Q6P9B9	INT5_HUMAN	H	893	.	ENSP00000327889:R893H	R	-	2	0	INTS5	62171450	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.430000	0.80321	2.823000	0.97156	0.650000	0.86243	CGC		0.647	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628	
SLC22A6	9356	broad.mit.edu	37	11	62748503	62748503	+	Missense_Mutation	SNP	G	G	A	rs150409056	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:62748503G>A	ENST00000377871.3	-	6	1257	c.991C>T	c.(991-993)Cgc>Tgc	p.R331C	SLC22A6_ENST00000421062.2_Missense_Mutation_p.R331C|SLC22A6_ENST00000458333.2_Missense_Mutation_p.R331C|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.R331C	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	331					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.R331C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GTGGGGCAGCGCAGCAGCTCC	0.652													G|||	3	0.000599042	0.0008	0.0	5008	,	,		16537	0.0		0.0	False		,,,				2504	0.002				p.R331C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C991T	11						.						52.0	47.0	49.0					11																	62748503		2201	4298	6499	62505079	SO:0001583	missense	9356	exon6			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.991C>T	11.37:g.62748503G>A	ENSP00000367102:p.Arg331Cys		62505079	NM_004790	A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293500	0.80914	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.01	5.01	0.66863	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.056000	0.64402	D	0.000002	T	0.80237	0.4586	M	0.84511	2.7	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	T	0.82337	-0.0507	10	0.56958	D	0.05	.	13.6808	0.62484	0.0:0.0:1.0:0.0	.	331;331;331;331	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	C	331;310;331;331;331	ENSP00000353597:R331C;ENSP00000367102:R331C;ENSP00000396401:R331C;ENSP00000404441:R331C	ENSP00000353597:R331C	R	-	1	0	SLC22A6	62505079	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.061000	0.71148	2.584000	0.87258	0.467000	0.42956	CGC		0.652	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790	
SLC22A10	387775	broad.mit.edu	37	11	63065156	63065156	+	Missense_Mutation	SNP	G	G	A	rs200940829	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:63065156G>A	ENST00000332793.6	+	4	789	c.787G>A	c.(787-789)Gtg>Atg	p.V263M	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_Missense_Mutation_p.V108M|SLC22A10_ENST00000535888.1_Missense_Mutation_p.V53M|SLC22A10_ENST00000525620.1_3'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	263						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.V263M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	AACCCTGCACGTGGTGGCGTC	0.458													G|||	17	0.00339457	0.0098	0.0014	5008	,	,		17597	0.0		0.0	False		,,,				2504	0.0031				p.V263M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G787A	11						.	G	MET/VAL	31,3873		0,31,1921	163.0	154.0	157.0		787	1.0	0.1	11		157	1,8265		0,1,4132	yes	missense	SLC22A10	NM_001039752.3	21	0,32,6053	AA,AG,GG		0.0121,0.7941,0.2629	possibly-damaging	263/542	63065156	32,12138	1952	4133	6085	62821732	SO:0001583	missense	387775	exon4			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.787G>A	11.37:g.63065156G>A	ENSP00000327569:p.Val263Met		62821732	NM_001039752	Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	CCDS41661.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.30	1.897059	0.33535	0.007941	1.21E-4	ENSG00000184999	ENST00000535888;ENST00000544661;ENST00000332793	T;T;T	0.59502	0.26;0.26;0.26	3.0	1.02	0.19986	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.208186	0.32147	U	0.006506	T	0.35799	0.0944	L	0.39514	1.22	0.24426	N	0.994593	P	0.51147	0.942	B	0.42462	0.388	T	0.34527	-0.9825	10	0.62326	D	0.03	.	6.986	0.24729	0.1879:0.6096:0.2025:0.0	.	263	Q63ZE4	S22AA_HUMAN	M	53;108;263	ENSP00000444602:V53M;ENSP00000445667:V108M;ENSP00000327569:V263M	ENSP00000327569:V263M	V	+	1	0	SLC22A10	62821732	0.996000	0.38824	0.058000	0.19502	0.215000	0.24574	0.470000	0.22084	0.154000	0.19237	-0.576000	0.04144	GTG		0.458	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752	
MACROD1	28992	broad.mit.edu	37	11	63883856	63883856	+	Intron	SNP	C	C	T	rs146061545	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:63883856C>T	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Silent_p.Y39Y	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.Y39Y(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TCCTCTGCTACGGGCTCATCG	0.652																																					p.Y39Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C117T	11						.	C	,	0,4402		0,0,2201	125.0	69.0	88.0		117,	0.4	1.0	11	dbSNP_134	88	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous,intron	FLRT1,MACROD1	NM_013280.4,NM_014067.3	,	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	,	39/675,	63883856	2,12994	2201	4297	6498	63640432	SO:0001627	intron_variant	23769	exon2			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34854G>A	11.37:g.63883856C>T			63640432	NM_013280	Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																				0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067	
ATG2A	23130	broad.mit.edu	37	11	64678613	64678613	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:64678613A>G	ENST00000377264.3	-	10	1475	c.1363T>C	c.(1363-1365)Ttt>Ctt	p.F455L	ATG2A_ENST00000421419.2_Missense_Mutation_p.F455L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	455					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.F455L(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCGGTGAAAAAGTGCGTGGCG	0.602																																					p.F455L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1363C	11						.						113.0	104.0	107.0					11																	64678613		2201	4297	6498	64435189	SO:0001583	missense	23130	exon10				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1363T>C	11.37:g.64678613A>G	ENSP00000366475:p.Phe455Leu		64435189	NM_015104	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.7|29.7	5.028134|5.028134	0.93518|0.93518	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264|ENST00000418259	T;T|.	0.20738|.	2.05;2.05|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64371|0.64371	0.2592|0.2592	L|L	0.59436|0.59436	1.845|1.845	0.51482|0.51482	D|D	0.999928|0.999928	D|.	0.69078|.	0.997|.	D|.	0.70716|.	0.97|.	T|T	0.63314|0.63314	-0.6665|-0.6665	10|5	0.87932|.	D|.	0|.	.|.	12.677|12.677	0.56899|0.56899	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	455|.	Q2TAZ0|.	ATG2A_HUMAN|.	L|P	455|256	ENSP00000410522:F455L;ENSP00000366475:F455L|.	ENSP00000366475:F455L|.	F|L	-|-	1|2	0|0	ATG2A|ATG2A	64435189|64435189	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.923000|0.923000	0.55619|0.55619	7.056000|7.056000	0.76662|0.76662	2.163000|2.163000	0.67991|0.67991	0.459000|0.459000	0.35465|0.35465	TTT|CTT		0.602	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104	
FAM89B	23625	broad.mit.edu	37	11	65340985	65340985	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:65340985C>T	ENST00000530349.1	+	2	585	c.443C>T	c.(442-444)gCg>gTg	p.A148V	FAM89B_ENST00000449319.2_Silent_p.C151C|FAM89B_ENST00000316409.2_Missense_Mutation_p.A135V|EHBP1L1_ENST00000309295.4_5'Flank			Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	148					negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)	transcription corepressor binding (GO:0001222)	p.A135V(1)		large_intestine(1)|urinary_tract(2)	3						CCACCGGATGCGGGCCTGTCT	0.622																																					p.A148V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C443T	11						.						78.0	67.0	71.0					11																	65340985		2201	4297	6498	65097561	SO:0001583	missense	23625	exon2			AF052151	CCDS8105.1, CCDS44648.1, CCDS53662.1	11q23	2007-12-04				ENSG00000176973			16708	protein-coding gene	gene with protein product						9525630, 10512749	Standard	NM_152832		Approved		uc001oel.2	Q8N5H3		ENST00000530349.1:c.443C>T	11.37:g.65340985C>T	ENSP00000431459:p.Ala148Val		65097561	NM_001098785	E9PB01|E9PL72|Q6PJ27	Missense_Mutation	SNP	ENST00000530349.1	37	CCDS53662.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402365	0.42613	.	.	ENSG00000173465;ENSG00000176973;ENSG00000176973;ENSG00000176973	ENST00000526433;ENST00000316409;ENST00000530349;ENST00000377088	.	.	.	4.78	3.84	0.44239	.	0.232511	0.22244	N	0.062653	T	0.37544	0.1007	N	0.22421	0.69	0.33896	D	0.637977	B;B	0.22604	0.072;0.072	B;B	0.19666	0.026;0.026	T	0.48422	-0.9037	9	0.48119	T	0.1	0.2229	10.6505	0.45645	0.0:0.806:0.194:0.0	.	135;148	Q8N5H3;E9PL72	FA89B_HUMAN;.	V	104;135;148;121	.	ENSP00000314829:A135V	A	+	2	0	SSSCA1;FAM89B	65097561	0.975000	0.34042	0.986000	0.45419	0.516000	0.34256	1.928000	0.40104	1.203000	0.43233	0.561000	0.74099	GCG		0.622	FAM89B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390095.1	NM_152832	
CNIH2	254263	broad.mit.edu	37	11	66050206	66050206	+	Silent	SNP	C	C	T	rs374304001		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:66050206C>T	ENST00000311445.6	+	3	411	c.153C>T	c.(151-153)cgC>cgT	p.R51R	CNIH2_ENST00000528852.1_Silent_p.R51R|CNIH2_ENST00000530519.1_3'UTR|YIF1A_ENST00000526497.1_5'Flank	NM_182553.2	NP_872359.1	Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	51					intracellular signal transduction (GO:0035556)|localization within membrane (GO:0051668)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|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)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.R51R(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCCAACAGCGCGAGCGTTTAA	0.652											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R51R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C153T	11						.	C		0,4400		0,0,2200	31.0	31.0	31.0		153	0.3	1.0	11		31	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	CNIH2	NM_182553.1		0,1,6493	TT,TC,CC		0.0116,0.0,0.0077		51/161	66050206	1,12987	2200	4294	6494	65806782	SO:0001819	synonymous_variant	254263	exon3			BC047953	CCDS8131.1	11q13.2	2013-08-28	2013-08-28		ENSG00000174871	ENSG00000174871			28744	protein-coding gene	gene with protein product		611288	"""cornichon homolog 2 (Drosophila)"""			12477932	Standard	NM_182553		Approved	MGC50896, Cnil, CNIH-2	uc001ohi.2	Q6PI25	OTTHUMG00000166919	ENST00000311445.6:c.153C>T	11.37:g.66050206C>T		1088	65806782	NM_182553		Silent	SNP	ENST00000311445.6	37	CCDS8131.1																																																																																				0.652	CNIH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391892.1	NM_182553	
NPAS4	266743	broad.mit.edu	37	11	66188763	66188763	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:66188763C>T	ENST00000311034.2	+	1	289	c.113C>T	c.(112-114)tCc>tTc	p.S38F		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	38	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.S38F(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GTCCGGCTGTCCTACCTGCAC	0.647																																					p.S38F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C113T	11						.						79.0	63.0	68.0					11																	66188763		2200	4295	6495	65945339	SO:0001583	missense	266743	exon1			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.113C>T	11.37:g.66188763C>T	ENSP00000311196:p.Ser38Phe		65945339	NM_178864	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584763	0.86748	.	.	ENSG00000174576	ENST00000311034	T	0.51325	0.71	5.19	5.19	0.71726	Helix-loop-helix DNA-binding (1);	0.257683	0.28527	N	0.015030	T	0.35913	0.0948	N	0.08118	0	0.80722	D	1	P	0.36990	0.577	B	0.42112	0.376	T	0.40608	-0.9554	10	0.56958	D	0.05	-21.2056	16.2538	0.82501	0.0:1.0:0.0:0.0	.	38	Q8IUM7	NPAS4_HUMAN	F	38	ENSP00000311196:S38F	ENSP00000311196:S38F	S	+	2	0	NPAS4	65945339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.181000	0.77682	2.691000	0.91804	0.563000	0.77884	TCC		0.647	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864	
BBS1	582	broad.mit.edu	37	11	66298370	66298370	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:66298370G>T	ENST00000318312.7	+	15	1530	c.1479G>T	c.(1477-1479)caG>caT	p.Q493H	ZDHHC24_ENST00000526986.1_Intron|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.Q530H|BBS1_ENST00000393994.2_Missense_Mutation_p.Q364H|BBS1_ENST00000455748.2_Missense_Mutation_p.Q396H	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	493					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)	p.Q493H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CATAGGTTCAGGGCCTTGGCC	0.597									Bardet-Biedl syndrome																												p.Q493H	GBM(152;173 2612 9770 10137)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1479T	11						.						178.0	151.0	160.0					11																	66298370		2200	4295	6495	66054946	SO:0001583	missense	582	exon15	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1479G>T	11.37:g.66298370G>T	ENSP00000317469:p.Gln493His		66054946	NM_024649	Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399952	0.62177	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.97209	-4.22;-4.29;-4.09;-4.06	4.59	1.68	0.24146	.	.	.	.	.	D	0.97682	0.9240	M	0.76838	2.35	0.80722	D	1	D;D;P;D;D;D	0.89917	0.962;1.0;0.544;1.0;1.0;1.0	P;D;B;D;D;D	0.76575	0.517;0.98;0.434;0.987;0.988;0.988	D	0.96246	0.9179	9	0.72032	D	0.01	.	7.5269	0.27660	0.2945:0.0:0.7055:0.0	.	168;396;364;381;493;530	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	H	530;493;396;364	ENSP00000398526:Q530H;ENSP00000317469:Q493H;ENSP00000405764:Q396H;ENSP00000377563:Q364H	ENSP00000317469:Q493H	Q	+	3	2	BBS1;CTD-3074O7.11	66054946	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	3.690000	0.54713	0.187000	0.20147	0.650000	0.86243	CAG		0.597	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2		
CTSF	8722	broad.mit.edu	37	11	66332098	66332098	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:66332098G>A	ENST00000310325.5	-	11	1361	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C	ACTN3_ENST00000513398.1_RNA|CTSF_ENST00000533168.1_5'Flank|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	418					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)	p.R418C(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CGGAGAGGGCGGGAGATCCCG	0.627																																					p.R418C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1252T	11						.						25.0	29.0	27.0					11																	66332098		2200	4293	6493	66088674	SO:0001583	missense	8722	exon11			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.1252C>T	11.37:g.66332098G>A	ENSP00000310832:p.Arg418Cys		66088674	NM_003793	B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.54|19.54	3.847269|3.847269	0.71603|0.71603	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000524994|ENST00000310325	.|D	.|0.87412	.|-2.25	4.32|4.32	4.32|4.32	0.51571|0.51571	.|Peptidase C1A, papain C-terminal (2);	.|0.053861	.|0.64402	.|D	.|0.000001	D|D	0.83385|0.83385	0.5243|0.5243	N|N	0.05230|0.05230	-0.09|-0.09	0.42665|0.42665	D|D	0.993497|0.993497	.|D	.|0.69078	.|0.997	.|P	.|0.60068	.|0.868	D|D	0.85687|0.85687	0.1304|0.1304	5|10	.|0.42905	.|T	.|0.14	.|.	14.3648|14.3648	0.66799|0.66799	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|418	.|Q9UBX1	.|CATF_HUMAN	L|C	265|418	.|ENSP00000310832:R418C	.|ENSP00000310832:R418C	P|R	-|-	2|1	0|0	CTSF|CTSF	66088674|66088674	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	7.770000|7.770000	0.85390|0.85390	2.247000|2.247000	0.74100|0.74100	0.462000|0.462000	0.41574|0.41574	CCG|CGC		0.627	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793	
SPTBN2	6712	broad.mit.edu	37	11	66458979	66458979	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:66458979C>T	ENST00000533211.1	-	27	5672	c.5341G>A	c.(5341-5343)Gag>Aag	p.E1781K	SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1781K|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1781K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1781					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.E1781K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCCAGGCCTCGTTGAGACTG	0.672																																					p.E1781K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5341A	11						.						52.0	41.0	45.0					11																	66458979		2200	4295	6495	66215555	SO:0001583	missense	6712	exon26			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5341G>A	11.37:g.66458979C>T	ENSP00000432568:p.Glu1781Lys		66215555	NM_006946	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	36	5.636449	0.96693	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.67865	-0.29;-0.29;-0.29	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.85906	0.1437	10	0.36615	T	0.2	.	16.7391	0.85454	0.0:1.0:0.0:0.0	.	1781	O15020	SPTN2_HUMAN	K	1781	ENSP00000432568:E1781K;ENSP00000311489:E1781K;ENSP00000433593:E1781K	ENSP00000311489:E1781K	E	-	1	0	SPTBN2	66215555	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.591000	0.82666	2.480000	0.83734	0.655000	0.94253	GAG		0.672	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946	
SPTBN2	6712	broad.mit.edu	37	11	66466466	66466466	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:66466466G>A	ENST00000533211.1	-	19	4195	c.3864C>T	c.(3862-3864)caC>caT	p.H1288H	SPTBN2_ENST00000309996.2_Silent_p.H1288H|SPTBN2_ENST00000529997.1_Silent_p.H1288H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1288					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.H1288H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCTCACCTCGTGACAATCTT	0.572																																					p.H1288H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3864T	11						.						69.0	68.0	68.0					11																	66466466		2200	4295	6495	66223042	SO:0001819	synonymous_variant	6712	exon18			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3864C>T	11.37:g.66466466G>A			66223042	NM_006946	O14872|O14873	Silent	SNP	ENST00000533211.1	37	CCDS8150.1																																																																																				0.572	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946	
PC	5091	broad.mit.edu	37	11	66617300	66617300	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:66617300G>A	ENST00000393958.2	-	20	3022	c.2929C>T	c.(2929-2931)Cgg>Tgg	p.R977W	PC_ENST00000393955.2_Missense_Mutation_p.R977W|PC_ENST00000529047.1_Missense_Mutation_p.R97W|PC_ENST00000393960.1_Missense_Mutation_p.R977W|PC_ENST00000528224.1_5'UTR	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	977					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.R977W(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCTCCAGGCCGCCCCTCCACC	0.647																																					p.R977W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2929T	11						.						60.0	56.0	57.0					11																	66617300		2200	4295	6495	66373876	SO:0001583	missense	5091	exon21			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2929C>T	11.37:g.66617300G>A	ENSP00000377530:p.Arg977Trp		66373876	NM_001040716	B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898591	0.52227	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	D;D;D;D	0.97598	-2.21;-4.45;-4.45;-4.45	5.01	3.09	0.35607	Carboxylase, conserved domain (1);	0.060430	0.64402	D	0.000004	D	0.99007	0.9661	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98406	1.0570	10	0.87932	D	0	-22.3326	11.1786	0.48614	0.0:0.0:0.5196:0.4804	.	977	P11498	PYC_HUMAN	W	97;977;977;977	ENSP00000435905:R97W;ENSP00000377527:R977W;ENSP00000377530:R977W;ENSP00000377532:R977W	ENSP00000377527:R977W	R	-	1	2	PC	66373876	0.996000	0.38824	1.000000	0.80357	0.639000	0.38242	2.192000	0.42649	0.657000	0.30906	0.462000	0.41574	CGG		0.647	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716	
PC	5091	broad.mit.edu	37	11	66620250	66620250	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:66620250G>T	ENST00000393958.2	-	13	1664	c.1571C>A	c.(1570-1572)cCc>cAc	p.P524H	PC_ENST00000393955.2_Missense_Mutation_p.P524H|PC_ENST00000529047.1_5'Flank|PC_ENST00000393960.1_Missense_Mutation_p.P524H|PC_ENST00000528224.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	524					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.P524H(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGGGTCCGTGGGGCTGGGGCT	0.627																																					p.P524H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1571A	11						.						76.0	74.0	75.0					11																	66620250		2200	4295	6495	66376826	SO:0001583	missense	5091	exon14			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1571C>A	11.37:g.66620250G>T	ENSP00000377530:p.Pro524His		66376826	NM_001040716	B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825178	0.32237	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.95724	-3.79;-3.79;-3.79	5.53	5.53	0.82687	.	0.233244	0.45361	D	0.000370	D	0.92496	0.7617	L	0.43152	1.355	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	D	0.88826	0.3302	10	0.17832	T	0.49	-18.3137	16.9874	0.86344	0.0:0.0:1.0:0.0	.	524	P11498	PYC_HUMAN	H	524	ENSP00000377527:P524H;ENSP00000377530:P524H;ENSP00000377532:P524H	ENSP00000377527:P524H	P	-	2	0	PC	66376826	1.000000	0.71417	0.959000	0.39883	0.978000	0.69477	5.575000	0.67430	2.605000	0.88082	0.655000	0.94253	CCC		0.627	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716	
PC	5091	broad.mit.edu	37	11	66638919	66638919	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:66638919G>A	ENST00000393958.2	-	5	447	c.354C>T	c.(352-354)taC>taT	p.Y118Y	PC_ENST00000355677.3_Silent_p.Y118Y|PC_ENST00000524491.1_Silent_p.Y78Y|PC_ENST00000393955.2_Silent_p.Y118Y|PC_ENST00000393960.1_Silent_p.Y118Y	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	118	Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.Y118Y(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGAGGAACCCGTAGCCAGGGT	0.627																																					p.Y118Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C354T	11						.						84.0	89.0	88.0					11																	66638919		2200	4295	6495	66395495	SO:0001819	synonymous_variant	5091	exon6			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.354C>T	11.37:g.66638919G>A			66395495	NM_001040716	B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	CCDS8152.1																																																																																				0.627	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716	
ANKRD13D	338692	broad.mit.edu	37	11	67059112	67059112	+	Missense_Mutation	SNP	C	C	T	rs377577130		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:67059112C>T	ENST00000447274.2	+	5	1350	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R146C|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R59C|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R59C			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	59						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.R59C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CGATGTGTACCGCGTGTGGAA	0.622																																					p.R146C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C436T	11						.	C	CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	73.0	76.0	75.0		436	3.0	0.9	11		75	0,8590		0,0,4295	no	missense	ANKRD13D	NM_207354.2	180	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	146/606	67059112	1,12989	2200	4295	6495	66815688	SO:0001583	missense	338692	exon5			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.175C>T	11.37:g.67059112C>T	ENSP00000402616:p.Arg59Cys		66815688	NM_207354	D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37		.	.	.	.	.	.	.	.	.	.	C	19.16	3.774176	0.69992	2.27E-4	0.0	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.35605	1.3;1.49;1.3;1.3	3.95	3.03	0.35002	.	0.081744	0.48767	N	0.000177	T	0.51432	0.1674	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.67900	0.954;0.899	T	0.52102	-0.8620	10	0.87932	D	0	-8.8452	6.2149	0.20649	0.1837:0.7172:0.0:0.0991	.	146;59	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	C	59;146;59;59	ENSP00000402616:R59C;ENSP00000427130:R146C;ENSP00000310874:R59C;ENSP00000444404:R59C	ENSP00000310874:R59C	R	+	1	0	ANKRD13D	66815688	0.998000	0.40836	0.927000	0.36925	0.949000	0.60115	1.103000	0.31062	1.020000	0.39573	0.561000	0.74099	CGC		0.622	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354	
SSH3	54961	broad.mit.edu	37	11	67076975	67076975	+	Missense_Mutation	SNP	C	C	A	rs145193470	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:67076975C>A	ENST00000308127.4	+	11	1347	c.1169C>A	c.(1168-1170)cCg>cAg	p.P390Q	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Missense_Mutation_p.P390Q	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	390	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P390Q(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CAGCTGCTGCCGCACTGGAAG	0.617																																					p.P390Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1169A	11						.						74.0	66.0	69.0					11																	67076975		2200	4295	6495	66833551	SO:0001583	missense	54961	exon11			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1169C>A	11.37:g.67076975C>A	ENSP00000312081:p.Pro390Gln		66833551	NM_017857	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274014	0.59649	.	.	ENSG00000172830	ENST00000308127;ENST00000376757	D;D	0.85171	-1.95;-1.95	4.18	4.18	0.49190	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.64402	D	0.000009	T	0.73040	0.3536	N	0.10972	0.075	0.41260	D	0.986773	P;B	0.47841	0.901;0.44	B;B	0.43413	0.419;0.398	T	0.72510	-0.4271	10	0.15499	T	0.54	-26.3929	15.8042	0.78481	0.0:1.0:0.0:0.0	.	244;390	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	Q	390	ENSP00000312081:P390Q;ENSP00000365948:P390Q	ENSP00000312081:P390Q	P	+	2	0	SSH3	66833551	0.608000	0.26966	0.997000	0.53966	0.701000	0.40568	2.231000	0.43009	2.351000	0.79841	0.462000	0.41574	CCG		0.617	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276	
CHKA	1119	broad.mit.edu	37	11	67842289	67842289	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:67842289C>A	ENST00000265689.4	-	4	551	c.525G>T	c.(523-525)gaG>gaT	p.E175D	CHKA_ENST00000356135.5_Missense_Mutation_p.E157D	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	175					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)	p.E175D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	GAACCATGGCCTCAGCCCCCT	0.507																																					p.E157D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G471T	11						.						93.0	83.0	86.0					11																	67842289		2200	4294	6494	67598865	SO:0001583	missense	1119	exon3			D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"""choline kinase"""	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.525G>T	11.37:g.67842289C>A	ENSP00000265689:p.Glu175Asp		67598865	NM_212469	Q8NE29	Missense_Mutation	SNP	ENST00000265689.4	37	CCDS8178.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581396	0.28180	.	.	ENSG00000110721	ENST00000265689;ENST00000356135;ENST00000531341	T;T;T	0.58797	0.31;0.31;0.31	4.97	2.06	0.26882	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.123855	0.53938	D	0.000051	T	0.29028	0.0721	N	0.04508	-0.205	0.58432	D	0.999994	B;B	0.11235	0.0;0.004	B;B	0.16289	0.001;0.015	T	0.03587	-1.1022	10	0.15952	T	0.53	-23.2848	8.1948	0.31389	0.0:0.6136:0.0:0.3864	.	157;175	P35790-2;P35790	.;CHKA_HUMAN	D	175;157;53	ENSP00000265689:E175D;ENSP00000348454:E157D;ENSP00000435032:E53D	ENSP00000265689:E175D	E	-	3	2	CHKA	67598865	0.985000	0.35326	1.000000	0.80357	0.924000	0.55760	0.219000	0.17641	0.273000	0.22049	0.563000	0.77884	GAG		0.507	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394570.1	NM_001277	
C11orf24	53838	broad.mit.edu	37	11	68030061	68030061	+	Silent	SNP	C	C	T	rs148354708	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:68030061C>T	ENST00000304271.6	-	4	804	c.402G>A	c.(400-402)acG>acA	p.T134T	C11orf24_ENST00000530166.1_5'UTR|C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	134						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T134T(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						AGGCTGCAGTCGTGGGAGCAC	0.622													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17045	0.001		0.0	False		,,,				2504	0.0				p.T134T	NSCLC(21;855 905 4198 36694)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G402A	11						.	C		2,4398	4.2+/-10.8	0,2,2198	50.0	42.0	45.0		402	-1.0	0.0	11	dbSNP_134	45	0,8588		0,0,4294	no	coding-synonymous	C11orf24	NM_022338.3		0,2,6492	TT,TC,CC		0.0,0.0455,0.0154		134/450	68030061	2,12986	2200	4294	6494	67786637	SO:0001819	synonymous_variant	53838	exon4			AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.402G>A	11.37:g.68030061C>T			67786637	NM_022338	Q9H2K4	Silent	SNP	ENST00000304271.6	37	CCDS8180.1																																																																																				0.622	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338	
LRP5	4041	broad.mit.edu	37	11	68191157	68191157	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:68191157G>A	ENST00000294304.7	+	14	3334	c.3228G>A	c.(3226-3228)gcG>gcA	p.A1076A		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1076	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A1076A(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCGTCAACGCGGAGCGAGGGT	0.682																																					p.A1076A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3228A	11						.						49.0	47.0	48.0					11																	68191157		2200	4293	6493	67947733	SO:0001819	synonymous_variant	4041	exon14			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3228G>A	11.37:g.68191157G>A			67947733	NM_002335	Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	CCDS8181.1																																																																																				0.682	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335	
ORAOV1	220064	broad.mit.edu	37	11	69482347	69482347	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:69482347C>T	ENST00000535657.1	-	5	435	c.354G>A	c.(352-354)tcG>tcA	p.S118S	ORAOV1_ENST00000279147.4_Silent_p.S118S|ORAOV1_ENST00000536870.1_Silent_p.S59S|ORAOV1_ENST00000539414.1_3'UTR			Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	118								p.S118S(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CATTGAGTAACGAACAAAACT	0.368																																					p.S118S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G354A	11						.						89.0	93.0	91.0					11																	69482347		2200	4294	6494	69191528	SO:0001819	synonymous_variant	220064	exon5				CCDS8192.1	11q13.2	2010-11-23			ENSG00000149716	ENSG00000149716			17589	protein-coding gene	gene with protein product	"""oral cancer overexpressed protein 1-A"""	607224				12172009	Standard	NM_153451		Approved	TAOS1	uc001opc.3	Q8WV07		ENST00000535657.1:c.354G>A	11.37:g.69482347C>T			69191528	NM_153451	B2R4R2|Q8NFK0	Silent	SNP	ENST00000535657.1	37	CCDS8192.1																																																																																				0.368	ORAOV1-009	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000396821.1	NM_153451	
ANO1	55107	broad.mit.edu	37	11	70017144	70017144	+	Splice_Site	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:70017144C>T	ENST00000355303.5	+	22	2654	c.2349C>T	c.(2347-2349)atC>atT	p.I783I	ANO1_ENST00000398543.2_Splice_Site_p.I637I|ANO1_ENST00000531349.1_Splice_Site_p.I492I|ANO1_ENST00000530676.1_Splice_Site_p.I637I|ANO1_ENST00000538023.1_Splice_Site_p.I783I|ANO1_ENST00000525494.1_3'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	783					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.I783I(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CCAAAGACATCGGTGAGTGAC	0.602																																					p.I783I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2349T	11						.						34.0	35.0	35.0					11																	70017144		1986	4169	6155	69694792	SO:0001630	splice_region_variant	55107	exon22			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2350+1C>T	11.37:g.70017144C>T			69694792	NM_018043	A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	CCDS44663.1																																																																																				0.602	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043	Silent
IL18BP	10068	broad.mit.edu	37	11	71712286	71712286	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:71712286T>C	ENST00000393703.4	+	4	812	c.275T>C	c.(274-276)tTc>tCc	p.F92S	IL18BP_ENST00000531053.1_Missense_Mutation_p.F92S|IL18BP_ENST00000260049.5_Missense_Mutation_p.F92S|IL18BP_ENST00000337131.5_Missense_Mutation_p.F92S|IL18BP_ENST00000393707.4_Intron|IL18BP_ENST00000404792.1_Missense_Mutation_p.F92S|IL18BP_ENST00000497194.2_Missense_Mutation_p.F92S|IL18BP_ENST00000393705.4_Missense_Mutation_p.F92S	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein	92	Ig-like C2-type.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)	p.F92S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TGCAGCCGCTTCCCCAACTTC	0.602																																					p.F92S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T275C	11						.						53.0	56.0	55.0					11																	71712286		2105	4218	6323	71389934	SO:0001583	missense	10068	exon4			AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713	ENST00000393703.4:c.275T>C	11.37:g.71712286T>C	ENSP00000377306:p.Phe92Ser		71389934	NM_001039660	B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	CCDS8206.2	.	.	.	.	.	.	.	.	.	.	T	9.756	1.168886	0.21621	.	.	ENSG00000137496	ENST00000393703;ENST00000497194;ENST00000393705;ENST00000337131;ENST00000531053;ENST00000404792;ENST00000260049	T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62	4.64	3.51	0.40186	Immunoglobulin-like (1);	0.462022	0.20609	N	0.089006	T	0.21387	0.0515	L	0.41027	1.25	0.09310	N	1	P;B	0.37731	0.607;0.379	B;B	0.34652	0.187;0.11	T	0.14090	-1.0485	10	0.52906	T	0.07	-15.4615	5.7806	0.18304	0.0:0.0891:0.1684:0.7425	.	92;92	G3V1C5;O95998	.;I18BP_HUMAN	S	92	ENSP00000377306:F92S;ENSP00000434717:F92S;ENSP00000377308:F92S;ENSP00000338723:F92S;ENSP00000434835:F92S;ENSP00000384212:F92S;ENSP00000260049:F92S	ENSP00000260049:F92S	F	+	2	0	IL18BP	71389934	0.018000	0.18449	0.151000	0.22473	0.662000	0.39071	1.005000	0.29834	0.801000	0.34066	0.459000	0.35465	TTC		0.602	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042	
ARHGEF17	9828	broad.mit.edu	37	11	73073162	73073162	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:73073162C>T	ENST00000263674.3	+	13	4922	c.4572C>T	c.(4570-4572)taC>taT	p.Y1524Y		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1524					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y1524Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCGACGGCTACGTGGGCCAGG	0.697																																					p.Y1524Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4572T	11						.						29.0	30.0	29.0					11																	73073162		2199	4293	6492	72750810	SO:0001819	synonymous_variant	9828	exon13			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4572C>T	11.37:g.73073162C>T			72750810	NM_014786	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	CCDS8221.1																																																																																				0.697	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786	
C2CD3	26005	broad.mit.edu	37	11	73850697	73850697	+	Silent	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:73850697A>G	ENST00000334126.7	-	4	886	c.660T>C	c.(658-660)atT>atC	p.I220I	C2CD3_ENST00000539061.1_Silent_p.I220I|C2CD3_ENST00000313663.7_Silent_p.I220I			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	220					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.I220I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTTTTCCATCAATTTTGATGG	0.433																																					p.I220I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T660C	11						.						288.0	285.0	286.0					11																	73850697		2200	4293	6493	73528345	SO:0001819	synonymous_variant	26005	exon4			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.660T>C	11.37:g.73850697A>G			73528345	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37																																																																																					0.433	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
OMP	4975	broad.mit.edu	37	11	76814196	76814196	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:76814196C>A	ENST00000529803.1	+	1	311	c.311C>A	c.(310-312)gCc>gAc	p.A104D	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	104					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A104D(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GACCCCACTGCCATCTTCTGG	0.622																																					p.A104D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C311A	11						.						49.0	57.0	55.0					11																	76814196		2141	4232	6373	76491844	SO:0001583	missense	4975	exon1			U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.311C>A	11.37:g.76814196C>A	ENSP00000436376:p.Ala104Asp		76491844	NM_006189	Q562G2	Missense_Mutation	SNP	ENST00000529803.1	37	CCDS53682.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774950	0.70107	.	.	ENSG00000254550	ENST00000529803	T	0.34859	1.34	5.29	5.29	0.74685	.	.	.	.	.	T	0.47303	0.1438	L	0.27053	0.805	0.36754	D	0.882941	D	0.67145	0.996	D	0.83275	0.996	T	0.55244	-0.8171	9	0.87932	D	0	.	14.3849	0.66938	0.0:0.8406:0.1594:0.0	.	104	P47874	OMP_HUMAN	D	104	ENSP00000436376:A104D	ENSP00000436376:A104D	A	+	2	0	OMP	76491844	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	3.695000	0.54749	2.757000	0.94681	0.462000	0.41574	GCC		0.622	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189	
MYO7A	4647	broad.mit.edu	37	11	76912561	76912561	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:76912561G>A	ENST00000409709.3	+	36	5193	c.4921G>A	c.(4921-4923)Gag>Aag	p.E1641K	MYO7A_ENST00000409619.2_Missense_Mutation_p.E1592K|MYO7A_ENST00000458637.2_Missense_Mutation_p.E1603K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1641	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.E1641K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGACACGGGCGAGCAGGTCAT	0.607																																					p.E1641K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4921A	11						.						65.0	72.0	70.0					11																	76912561		2169	4251	6420	76590209	SO:0001583	missense	4647	exon36			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4921G>A	11.37:g.76912561G>A	ENSP00000386331:p.Glu1641Lys		76590209	NM_000260	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131426	0.94473	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	4.58	4.58	0.56647	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.72724	0.3496	M	0.66506	2.035	0.80722	D	1	D;P;P	0.55605	0.972;0.723;0.9	P;B;P	0.46452	0.517;0.203;0.449	T	0.72564	-0.4255	10	0.26408	T	0.33	.	17.5911	0.87997	0.0:0.0:1.0:0.0	.	1592;1603;1641	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	K	1641;1603;1592;814;1640;1610;1517;783;256	ENSP00000386331:E1641K;ENSP00000392185:E1603K;ENSP00000386635:E1592K;ENSP00000417017:E783K	ENSP00000345075:E1517K	E	+	1	0	MYO7A	76590209	1.000000	0.71417	0.922000	0.36590	0.951000	0.60555	9.222000	0.95196	2.375000	0.81037	0.561000	0.74099	GAG		0.607	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
NARS2	79731	broad.mit.edu	37	11	78147846	78147846	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:78147846C>T	ENST00000281038.5	-	14	1679	c.1304G>A	c.(1303-1305)cGt>cAt	p.R435H	NARS2_ENST00000528850.1_Missense_Mutation_p.R208H|RP11-452H21.1_ENST00000534168.1_RNA	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	435					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.R435H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TCCAAATCGACGAAGGTCCAG	0.358																																					p.R435H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1304A	11						.						178.0	179.0	179.0					11																	78147846		2200	4292	6492	77825494	SO:0001583	missense	79731	exon14			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1304G>A	11.37:g.78147846C>T	ENSP00000281038:p.Arg435His		77825494	NM_024678	G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404005	0.96051	.	.	ENSG00000137513	ENST00000281038;ENST00000528850	D;D	0.85258	-1.96;-1.96	5.78	5.78	0.91487	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.048793	0.85682	D	0.000000	D	0.96009	0.8700	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97255	0.9900	10	0.87932	D	0	-14.5891	19.994	0.97377	0.0:1.0:0.0:0.0	.	435	Q96I59	SYNM_HUMAN	H	435;208	ENSP00000281038:R435H;ENSP00000432635:R208H	ENSP00000281038:R435H	R	-	2	0	NARS2	77825494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.716000	0.92895	0.591000	0.81541	CGT		0.358	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678	
NARS2	79731	broad.mit.edu	37	11	78204194	78204194	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:78204194T>A	ENST00000281038.5	-	7	1112	c.737A>T	c.(736-738)aAt>aTt	p.N246I	NARS2_ENST00000528850.1_Missense_Mutation_p.N19I	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	246					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.N246I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GCTCTGAGAATTTTCAGCTCG	0.388																																					p.N246I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A737T	11						.						66.0	70.0	68.0					11																	78204194		2200	4292	6492	77881842	SO:0001583	missense	79731	exon7			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.737A>T	11.37:g.78204194T>A	ENSP00000281038:p.Asn246Ile		77881842	NM_024678	G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.973687	0.92919	.	.	ENSG00000137513	ENST00000281038;ENST00000528850	D;D	0.85088	-1.94;-1.94	5.67	5.67	0.87782	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.92756	0.7697	M	0.92970	3.365	0.80722	D	1	D	0.56287	0.975	P	0.58454	0.839	D	0.94198	0.7447	10	0.87932	D	0	-16.8714	13.427	0.61030	0.0:0.0:0.0:1.0	.	246	Q96I59	SYNM_HUMAN	I	246;19	ENSP00000281038:N246I;ENSP00000432635:N19I	ENSP00000281038:N246I	N	-	2	0	NARS2	77881842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.121000	0.77160	2.157000	0.67596	0.528000	0.53228	AAT		0.388	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678	
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226	Basic motif. {ECO:0000250}.|bZIP.				negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.226_226del	NSCLC(172;674 2044 9050 18334 41735)											.	.	1	Deletion - In frame(1)	large_intestine(1)	c.676_678del	11						.			5,3619		2,1,1809						4.9	1.0			62	8,7784		3,2,3891	no	coding	CREBZF	NM_001039618.2		5,3,5700	A1A1,A1R,RR		0.1027,0.138,0.1139				13,11403				85052892	SO:0001651	inframe_deletion	58487	exon1			AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.676_678delAAG	11.37:g.85375248_85375250delCTT	ENSP00000433459:p.Lys226del	1236	85052890	NM_001039618	B2R8Q9|Q0P5U9|Q52LT3	In_Frame_Del	DEL	ENST00000527447.1	37	CCDS41697.1																																																																																				0.665	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618	
SESN3	143686	broad.mit.edu	37	11	94918604	94918604	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:94918604G>A	ENST00000536441.1	-	5	914	c.578C>T	c.(577-579)gCt>gTt	p.A193V	SESN3_ENST00000278499.2_Missense_Mutation_p.A54V|SESN3_ENST00000393234.1_Missense_Mutation_p.A193V|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.A193V|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	193					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)		p.A193V(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GAGGACCACAGCATGTACCAG	0.388																																					p.A193V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C578T	11						.						102.0	102.0	102.0					11																	94918604		2201	4297	6498	94558252	SO:0001583	missense	143686	exon5			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.578C>T	11.37:g.94918604G>A	ENSP00000441927:p.Ala193Val		94558252	NM_144665	B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475659	0.84640	.	.	ENSG00000149212	ENST00000536441;ENST00000278499;ENST00000393234;ENST00000416495	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.86028	2.79	0.80722	D	1	D;P;P	0.69078	0.997;0.869;0.474	D;B;B	0.79108	0.992;0.38;0.285	T	0.74553	-0.3627	10	0.72032	D	0.01	-11.9922	19.4864	0.95030	0.0:0.0:1.0:0.0	.	54;193;193	B7Z7P9;P58005-3;P58005	.;.;SESN3_HUMAN	V	193;54;193;193	ENSP00000441927:A193V;ENSP00000278499:A54V;ENSP00000376926:A193V;ENSP00000407008:A193V	ENSP00000278499:A54V	A	-	2	0	SESN3	94558252	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	8.895000	0.92512	2.687000	0.91594	0.561000	0.74099	GCT		0.388	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665	
VWA5A	4013	broad.mit.edu	37	11	124005694	124005694	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:124005694delG	ENST00000456829.2	+	12	1563	c.1312delG	c.(1312-1314)gggfs	p.G439fs	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Frame_Shift_Del_p.G439fs	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	439	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.							p.G439fs*20(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CCGGGCATCAGGGGGCACCTC	0.502																																					p.G438fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1312delG	11						.						85.0	77.0	79.0					11																	124005694		2201	4299	6500	123510904	SO:0001589	frameshift_variant	4013	exon11			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1312delG	11.37:g.124005694delG	ENSP00000407726:p.Gly439fs		123510904	NM_014622	Q6UN19|Q6UN20|Q9BVF8	Frame_Shift_Del	DEL	ENST00000456829.2	37	CCDS8444.1																																																																																				0.502	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	
CCDC15	80071	broad.mit.edu	37	11	124845049	124845049	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:124845049delA	ENST00000344762.5	+	5	833	c.574delA	c.(574-576)aaafs	p.K194fs	CCDC15_ENST00000529051.1_Frame_Shift_Del_p.K194fs	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	194						centrosome (GO:0005813)		p.K194fs*29(5)|p.S196fs*6(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AACCGTGATTAAAAAAAAGGG	0.373																																					p.K192fs												.	.	7	Deletion - Frameshift(5)|Insertion - Frameshift(2)	large_intestine(7)	c.574delA	11						.																																			124350259	SO:0001589	frameshift_variant	80071	exon5			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.574delA	11.37:g.124845049delA	ENSP00000341684:p.Lys194fs		124350259	NM_025004	Q9H8U7	Frame_Shift_Del	DEL	ENST00000344762.5	37	CCDS44756.1																																																																																				0.373	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004	
PKNOX2	63876	broad.mit.edu	37	11	125237794	125237794	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:125237794delC	ENST00000298282.9	+	5	411	c.140delC	c.(139-141)gccfs	p.A47fs	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Intron	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	47					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.S49fs*35(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CACATCTCTGCCCCCTCAGCT	0.637																																					p.A47fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.140delC	11						.						56.0	68.0	64.0					11																	125237794		2089	4208	6297	124743004	SO:0001589	frameshift_variant	63876	exon5			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.140delC	11.37:g.125237794delC	ENSP00000298282:p.Ala47fs		124743004	NM_022062	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Frame_Shift_Del	DEL	ENST00000298282.9	37	CCDS41730.1																																																																																				0.637	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3		
PRDM10	56980	broad.mit.edu	37	11	129787028	129787028	+	Silent	SNP	G	G	A	rs141324100		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:129787028G>A	ENST00000360871.3	-	15	2550	c.2319C>T	c.(2317-2319)tgC>tgT	p.C773C	PRDM10_ENST00000304538.6_Silent_p.C687C|PRDM10_ENST00000358825.5_Silent_p.C777C|PRDM10_ENST00000423662.2_Silent_p.C691C|PRDM10_ENST00000528746.1_Silent_p.C747C|PRDM10_ENST00000526082.1_Silent_p.C691C	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	777					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.C773C(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTACCTTATCGCAATACTGAC	0.378																																					p.C777C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2331T	11						.	G	,,,	1,4401	2.1+/-5.4	0,1,2200	179.0	162.0	168.0		2331,2319,2073,2061	0.8	1.0	11	dbSNP_134	168	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRDM10	NM_020228.2,NM_199437.1,NM_199438.1,NM_199439.1	,,,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,,,	777/1161,773/1157,691/1062,687/1024	129787028	1,12995	2201	4297	6498	129292238	SO:0001819	synonymous_variant	56980	exon16			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2319C>T	11.37:g.129787028G>A			129292238	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	CCDS8484.1																																																																																				0.378	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437	
AIM1	202	broad.mit.edu	37	6	106968762	106968762	+	Missense_Mutation	SNP	G	G	A	rs368874479	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:106968762G>A	ENST00000369066.3	+	2	2942	c.2455G>A	c.(2455-2457)Gtc>Atc	p.V819I		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.V819I(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAACAGGGACGTCACAAATGG	0.438													G|||	8	0.00159744	0.0	0.0	5008	,	,		21650	0.0		0.0	False		,,,				2504	0.0082				p.V819I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2455A	6						.	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	90.0	85.0	87.0		2455	-11.0	0.0	6		87	0,8600		0,0,4300	no	missense	AIM1	NM_001624.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	819/1724	106968762	1,13005	2203	4300	6503	107075455	SO:0001583	missense	202	exon2			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2455G>A	6.37:g.106968762G>A	ENSP00000358062:p.Val819Ile		107075455	NM_001624	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.316384	0.01331	2.27E-4	0.0	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71222	-0.55	5.97	-11.0	0.00169	.	1.351790	0.04395	N	0.363074	T	0.17195	0.0413	N	0.11064	0.09	0.18873	N	0.999987	B	0.06786	0.001	B	0.01281	0.0	T	0.07654	-1.0761	10	0.05721	T	0.95	.	10.5951	0.45331	0.2858:0.0:0.5051:0.2091	.	819	Q9Y4K1	AIM1_HUMAN	I	1227;819	ENSP00000358062:V819I	ENSP00000285105:V1227I	V	+	1	0	AIM1	107075455	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.359000	0.02602	-1.773000	0.01290	-2.869000	0.00099	GTC		0.438	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
C6orf203	51250	broad.mit.edu	37	6	107361043	107361043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:107361043C>T	ENST00000405204.2	+	2	686	c.79C>T	c.(79-81)Cga>Tga	p.R27*	C6orf203_ENST00000443043.1_Nonsense_Mutation_p.R32*|C6orf203_ENST00000311381.5_Nonsense_Mutation_p.R27*	NM_001142468.1	NP_001135940.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	27						mitochondrion (GO:0005739)		p.R27*(1)		large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		GGGTGTTCTCCGAGGGACACC	0.408																																					p.R32X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C94T	6						.						92.0	94.0	93.0					6																	107361043		2203	4300	6503	107467736	SO:0001587	stop_gained	51250	exon3			AF151064	CCDS5058.1	6q21	2012-02-22			ENSG00000130349	ENSG00000130349			17971	protein-coding gene	gene with protein product						11042152, 11707072	Standard	XM_005267008		Approved	HSPC230, PRED31	uc003prq.3	Q9P0P8	OTTHUMG00000015307	ENST00000405204.2:c.79C>T	6.37:g.107361043C>T	ENSP00000384867:p.Arg27*		107467736	NM_001142470	B3KRG9	Nonsense_Mutation	SNP	ENST00000405204.2	37	CCDS5058.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074783	0.94000	.	.	ENSG00000130349	ENST00000443043;ENST00000405204;ENST00000311381	.	.	.	5.56	4.62	0.57501	.	0.639657	0.13930	N	0.352966	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2162	6.7392	0.23426	0.0:0.8202:0.0:0.1798	.	.	.	.	X	32;27;27	.	ENSP00000310951:R27X	R	+	1	2	C6orf203	107467736	0.312000	0.24545	0.016000	0.15963	0.834000	0.47266	1.083000	0.30815	2.890000	0.99128	0.655000	0.94253	CGA		0.408	C6orf203-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041684.1	NM_016487	
FOXO3	2309	broad.mit.edu	37	6	108984785	108984785	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:108984785G>A	ENST00000343882.6	+	3	1053	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	FOXO3_ENST00000406360.1_Missense_Mutation_p.R250Q|FOXO3_ENST00000540898.1_Missense_Mutation_p.R30Q	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	250					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R250Q(1)		central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCCCGGCGGCGGGCTGTCTCC	0.592																																					p.R250Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G749A	6						.						14.0	17.0	16.0					6																	108984785		2193	4271	6464	109091478	SO:0001583	missense	2309	exon2			AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.749G>A	6.37:g.108984785G>A	ENSP00000339527:p.Arg250Gln		109091478	NM_001455	B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465291	0.84425	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.94417	-3.42;-3.42	5.74	5.74	0.90152	Transcription factor, fork head (1);	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96614	0.9454	10	0.46703	T	0.11	-5.5525	19.9077	0.97014	0.0:0.0:1.0:0.0	.	250	O43524	FOXO3_HUMAN	Q	250;250;30;30	ENSP00000339527:R250Q;ENSP00000385824:R250Q	ENSP00000339527:R250Q	R	+	2	0	FOXO3	109091478	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	9.448000	0.97600	2.712000	0.92718	0.561000	0.74099	CGG		0.592	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2		
FOXO3	2309	broad.mit.edu	37	6	108985678	108985678	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:108985678C>T	ENST00000343882.6	+	3	1946	c.1642C>T	c.(1642-1644)Cgt>Tgt	p.R548C	FOXO3_ENST00000406360.1_Missense_Mutation_p.R548C|FOXO3_ENST00000540898.1_Missense_Mutation_p.R328C	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	548					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R548C(1)		central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		TGGTGGCAGCCGTGCCTTGTC	0.562																																					p.R548C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1642T	6						.						32.0	33.0	33.0					6																	108985678		2201	4295	6496	109092371	SO:0001583	missense	2309	exon2			AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1642C>T	6.37:g.108985678C>T	ENSP00000339527:p.Arg548Cys		109092371	NM_001455	B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839955	0.71488	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.91011	-2.77;-2.77	5.8	5.8	0.92144	.	0.213542	0.50627	D	0.000103	D	0.93413	0.7899	M	0.63843	1.955	0.58432	D	0.999999	D	0.76494	0.999	P	0.62298	0.9	D	0.92493	0.6002	10	0.51188	T	0.08	-1.2629	20.0693	0.97712	0.0:1.0:0.0:0.0	.	548	O43524	FOXO3_HUMAN	C	548;548;328;328	ENSP00000339527:R548C;ENSP00000385824:R548C	ENSP00000339527:R548C	R	+	1	0	FOXO3	109092371	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.326000	0.52037	2.758000	0.94735	0.563000	0.77884	CGT		0.562	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2		
HEY2	23493	broad.mit.edu	37	6	126080335	126080335	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:126080335C>T	ENST00000368364.3	+	5	598	c.401C>T	c.(400-402)gCg>gTg	p.A134V	HEY2_ENST00000368365.1_Missense_Mutation_p.A88V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	134	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|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 from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|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)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A134V(2)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACAGAAGTTGCGCGGTACCTG	0.587																																					p.A134V												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C401T	6						.						132.0	118.0	123.0					6																	126080335		2203	4300	6503	126122028	SO:0001583	missense	23493	exon5			AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.401C>T	6.37:g.126080335C>T	ENSP00000357348:p.Ala134Val		126122028	NM_012259		Missense_Mutation	SNP	ENST00000368364.3	37	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731357	0.69189	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.54071	0.59;0.59	5.54	5.54	0.83059	Orange subgroup (1);Orange (2);	0.066854	0.64402	D	0.000019	T	0.49575	0.1565	L	0.38838	1.175	0.80722	D	1	D	0.60160	0.987	P	0.56788	0.806	T	0.30794	-0.9966	10	0.25751	T	0.34	-8.5007	19.4671	0.94946	0.0:1.0:0.0:0.0	.	134	Q9UBP5	HEY2_HUMAN	V	88;134	ENSP00000357349:A88V;ENSP00000357348:A134V	ENSP00000357348:A134V	A	+	2	0	HEY2	126122028	1.000000	0.71417	0.959000	0.39883	0.214000	0.24535	7.736000	0.84948	2.606000	0.88127	0.561000	0.74099	GCG		0.587	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1		
HEY2	23493	broad.mit.edu	37	6	126080782	126080782	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:126080782C>T	ENST00000368364.3	+	5	1045	c.848C>T	c.(847-849)gCg>gTg	p.A283V	HEY2_ENST00000368365.1_Missense_Mutation_p.A237V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	283	Ala-rich.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|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 from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|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)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A283V(1)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CTGTCCTTCGCGGGGGCATTC	0.667																																					p.A283V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C848T	6						.						108.0	115.0	113.0					6																	126080782		2203	4299	6502	126122475	SO:0001583	missense	23493	exon5			AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.848C>T	6.37:g.126080782C>T	ENSP00000357348:p.Ala283Val		126122475	NM_012259		Missense_Mutation	SNP	ENST00000368364.3	37	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150205	0.37923	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.58797	0.31;0.31	5.24	5.24	0.73138	.	0.444772	0.22338	N	0.061380	T	0.26195	0.0639	N	0.22421	0.69	0.09310	N	1	B	0.25390	0.125	B	0.16289	0.015	T	0.05146	-1.0903	10	0.30078	T	0.28	-19.5146	15.8869	0.79258	0.0:0.8647:0.1353:0.0	.	283	Q9UBP5	HEY2_HUMAN	V	237;283	ENSP00000357349:A237V;ENSP00000357348:A283V	ENSP00000357348:A283V	A	+	2	0	HEY2	126122475	0.367000	0.25023	0.423000	0.26634	0.960000	0.62799	2.187000	0.42602	2.431000	0.82371	0.561000	0.74099	GCG		0.667	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1		
RSPO3	84870	broad.mit.edu	37	6	127469957	127469957	+	Nonsense_Mutation	SNP	C	C	T	rs200509277		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:127469957C>T	ENST00000356698.4	+	2	851	c.262C>T	c.(262-264)Cga>Tga	p.R88*	RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Nonsense_Mutation_p.R88*	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	88					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.R88*(1)	PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TTATGGAACTCGATATCCAGA	0.363																																					p.R88X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C262T	6						.						129.0	123.0	125.0					6																	127469957		2203	4300	6503	127511650	SO:0001587	stop_gained	84870	exon2			BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.262C>T	6.37:g.127469957C>T	ENSP00000349131:p.Arg88*		127511650	NM_032784	B2RC27|Q5VTV4|Q96K87	Nonsense_Mutation	SNP	ENST00000356698.4	37	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	C	37	6.183353	0.97357	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5343	19.9155	0.97058	0.0:1.0:0.0:0.0	.	.	.	.	X	88	.	ENSP00000349131:R88X	R	+	1	2	RSPO3	127511650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.526000	0.60566	2.699000	0.92147	0.650000	0.86243	CGA		0.363	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784	
PTPRK	5796	broad.mit.edu	37	6	128388755	128388755	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:128388755T>A	ENST00000368215.3	-	12	2065	c.2066A>T	c.(2065-2067)gAc>gTc	p.D689V	PTPRK_ENST00000368213.5_Missense_Mutation_p.D689V|PTPRK_ENST00000368227.3_Missense_Mutation_p.D689V|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Missense_Mutation_p.D689V|PTPRK_ENST00000368207.3_Missense_Mutation_p.D689V|PTPRK_ENST00000368210.3_Missense_Mutation_p.D689V|PTPRK_ENST00000368226.4_Missense_Mutation_p.D689V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	689					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D689V(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGTCCGATTGTCACCCACAGT	0.542																																					p.D689V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2066T	6						.						101.0	99.0	99.0					6																	128388755		2203	4300	6503	128430448	SO:0001583	missense	5796	exon12			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2066A>T	6.37:g.128388755T>A	ENSP00000357198:p.Asp689Val		128430448	NM_002844	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37		.	.	.	.	.	.	.	.	.	.	T	23.5	4.428218	0.83667	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.14893	2.51;2.47;2.49;2.51;2.47;2.58;2.53	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.71871	2.18	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.999;0.998;1.0;0.998;0.999	D;D;D;D;D;D	0.83275	0.994;0.959;0.969;0.993;0.991;0.996	T	0.14254	-1.0479	10	0.87932	D	0	.	16.0183	0.80460	0.0:0.0:0.0:1.0	.	689;689;689;546;689;689	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	V	689;689;689;689;689;689;689;546	ENSP00000357209:D689V;ENSP00000357210:D689V;ENSP00000432973:D689V;ENSP00000357196:D689V;ENSP00000357193:D689V;ENSP00000357198:D689V;ENSP00000357190:D689V	ENSP00000357190:D689V	D	-	2	0	PTPRK	128430448	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	8.040000	0.89188	2.187000	0.69744	0.533000	0.62120	GAC		0.542	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		
LAMA2	3908	broad.mit.edu	37	6	129722399	129722399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:129722399C>T	ENST00000421865.2	+	38	5525	c.5476C>T	c.(5476-5478)Cga>Tga	p.R1826*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1826	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R1826*(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)		AAGCGGCAAACGACAAATTGA	0.393																																					p.R1826X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5476T	6	GRCh37	CM983961	LAMA2	M		.						142.0	141.0	141.0					6																	129722399		2203	4300	6503	129764092	SO:0001587	stop_gained	3908	exon38			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.5476C>T	6.37:g.129722399C>T	ENSP00000400365:p.Arg1826*		129764092	NM_001079823	Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	44	10.545815	0.99425	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	4.82	1.95	0.26073	.	0.445606	0.21181	N	0.078818	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	13.5952	0.61984	0.5421:0.4579:0.0:0.0	.	.	.	.	X	1826	.	ENSP00000346769:R1826X	R	+	1	2	LAMA2	129764092	0.026000	0.19158	0.048000	0.18961	0.488000	0.33401	1.030000	0.30153	0.150000	0.19136	-0.182000	0.12963	CGA		0.393	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	broad.mit.edu	37	6	129813184	129813184	+	Silent	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:129813184T>C	ENST00000421865.2	+	57	8086	c.8037T>C	c.(8035-8037)ccT>ccC	p.P2679P	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2679	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.P2679P(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)		ATATTCCTCCTTTTGAAGGCT	0.383																																					p.P2675P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T8025C	6						.						75.0	80.0	78.0					6																	129813184		2203	4300	6503	129854877	SO:0001819	synonymous_variant	3908	exon56			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8037T>C	6.37:g.129813184T>C			129854877	NM_001079823	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																				0.383	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
MYB	4602	broad.mit.edu	37	6	135518401	135518401	+	Intron	SNP	C	C	T	rs150884969	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:135518401C>T	ENST00000367814.4	+	9	1389				MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000528774.1_Silent_p.D499D|MYB_ENST00000341911.5_Silent_p.D502D|MYB_ENST00000534044.1_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000534121.1_Silent_p.D486D|MYB_ENST00000533624.1_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000442647.2_Intron	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.D502D(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TATTTGCTGACGTCAGCAGTT	0.512			T	NFIB	adenoid cystic carcinoma								C|||	2	0.000399361	0.0008	0.0	5008	,	,		20044	0.001		0.0	False		,,,				2504	0.0				p.D499D			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1497T	6						.	C	,,,,,,,	1,3135		0,1,1567	77.0	72.0	74.0		,1506,1497,,1458,,,	4.0	1.0	6	dbSNP_134	74	0,7164		0,0,3582	no	intron,coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,intron,intron	MYB	NM_001130172.1,NM_001130173.1,NM_001161656.1,NM_001161657.1,NM_001161658.1,NM_001161659.1,NM_001161660.1,NM_005375.2	,,,,,,,	0,1,5149	TT,TC,CC		0.0,0.0319,0.0097	,,,,,,,	,502/762,499/759,,486/746,,,	135518401	1,10299	1568	3582	5150	135560094	SO:0001627	intron_variant	4602	exon10				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1203+1261C>T	6.37:g.135518401C>T			135560094	NM_001161656	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Silent	SNP	ENST00000367814.4	37	CCDS5174.1																																																																																				0.512	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4		
AHI1	54806	broad.mit.edu	37	6	135644405	135644405	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:135644405C>T	ENST00000367800.4	-	23	3439	c.3223G>A	c.(3223-3225)Gga>Aga	p.G1075R	AHI1_ENST00000457866.2_Missense_Mutation_p.G1075R|AHI1_ENST00000417892.2_Missense_Mutation_p.G429R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1075	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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.G1075R(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)		ATAATGTCTCCGCGATGGATG	0.433																																					p.G1075R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3223A	6						.						114.0	104.0	107.0					6																	135644405		1913	4128	6041	135686098	SO:0001583	missense	54806	exon24			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.3223G>A	6.37:g.135644405C>T	ENSP00000356774:p.Gly1075Arg		135686098	NM_017651	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733531	0.69189	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	6.06	5.02	0.67125	Src homology-3 domain (5);	0.108387	0.64402	D	0.000004	D	0.83275	0.5219	H	0.98664	4.295	0.80722	D	1	D;D	0.61697	0.99;0.98	P;P	0.56960	0.81;0.626	D	0.85619	0.1263	10	0.44086	T	0.13	-22.1267	7.0422	0.25027	0.0:0.7687:0.0:0.2312	.	1075;1075	Q8N157;Q4FD35	AHI1_HUMAN;.	R	1075;1075;429;1075	ENSP00000356774:G1075R;ENSP00000388650:G1075R;ENSP00000416867:G429R;ENSP00000265602:G1075R	ENSP00000265602:G1075R	G	-	1	0	AHI1	135686098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.754000	0.55189	2.882000	0.98803	0.655000	0.94253	GGA		0.433	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	
GPR126	57211	broad.mit.edu	37	6	142704975	142704975	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:142704975G>T	ENST00000230173.6	+	6	1693	c.1217G>T	c.(1216-1218)aGg>aTg	p.R406M	GPR126_ENST00000367609.3_Missense_Mutation_p.R406M|GPR126_ENST00000296932.8_Intron|GPR126_ENST00000367608.2_Intron	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	406					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.R406M(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GATAAACAAAGGAATGGTAAG	0.323																																					p.R406M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1217T	6						.						129.0	116.0	120.0					6																	142704975		1845	4102	5947	142746668	SO:0001583	missense	57211	exon6			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1217G>T	6.37:g.142704975G>T	ENSP00000230173:p.Arg406Met		142746668	NM_198569	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369387	0.24771	.	.	ENSG00000112414	ENST00000230173;ENST00000367609	T;T	0.37058	1.22;1.22	5.55	-10.1	0.00402	.	1.263790	0.05160	N	0.497636	T	0.06325	0.0163	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.09596	-1.0667	10	0.39692	T	0.17	.	0.8789	0.01230	0.3091:0.1643:0.1189:0.4077	.	406;406	Q86SQ4-3;Q86SQ4	.;GP126_HUMAN	M	406	ENSP00000230173:R406M;ENSP00000356581:R406M	ENSP00000230173:R406M	R	+	2	0	GPR126	142746668	0.008000	0.16893	0.140000	0.22221	0.955000	0.61496	-0.375000	0.07475	-2.429000	0.00558	-1.359000	0.01217	AGG		0.323	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2		
HIVEP2	3097	broad.mit.edu	37	6	143090995	143090995	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:143090995C>T	ENST00000367604.1	-	4	5520	c.4881G>A	c.(4879-4881)acG>acA	p.T1627T	HIVEP2_ENST00000012134.2_Silent_p.T1627T|HIVEP2_ENST00000367603.2_Silent_p.T1627T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1627					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.T1627T(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)		CTGCCATGTCCGTGAGAAGAA	0.532																																					p.T1627T	Esophageal Squamous(107;843 1510 13293 16805 42198)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4881A	6						.						49.0	53.0	52.0					6																	143090995		2098	4230	6328	143132688	SO:0001819	synonymous_variant	3097	exon5			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4881G>A	6.37:g.143090995C>T			143132688	NM_006734	Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	CCDS43510.1																																																																																				0.532	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
HIVEP2	3097	broad.mit.edu	37	6	143095361	143095361	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:143095361T>C	ENST00000367604.1	-	4	1154	c.515A>G	c.(514-516)cAg>cGg	p.Q172R	HIVEP2_ENST00000012134.2_Missense_Mutation_p.Q172R|HIVEP2_ENST00000367603.2_Missense_Mutation_p.Q172R			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	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.Q172R(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)		CTCTTCTGCCTGTTCAATACT	0.438																																					p.Q172R	Esophageal Squamous(107;843 1510 13293 16805 42198)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A515G	6						.						138.0	132.0	134.0					6																	143095361		1867	4110	5977	143137054	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.515A>G	6.37:g.143095361T>C	ENSP00000356576:p.Gln172Arg		143137054	NM_006734	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341485	0.41498	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02579	4.24;4.24;4.24	5.79	3.29	0.37713	.	0.117281	0.64402	D	0.000013	T	0.00936	0.0031	L	0.56769	1.78	0.28877	N	0.894601	B	0.27068	0.167	B	0.28553	0.091	T	0.47699	-0.9097	10	0.07175	T	0.84	-9.1507	7.9716	0.30130	0.1285:0.0:0.2685:0.6031	.	172	P31629	ZEP2_HUMAN	R	172	ENSP00000356576:Q172R;ENSP00000356575:Q172R;ENSP00000012134:Q172R	ENSP00000012134:Q172R	Q	-	2	0	HIVEP2	143137054	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	3.191000	0.50981	0.404000	0.25506	0.533000	0.62120	CAG		0.438	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
STX11	8676	broad.mit.edu	37	6	144508243	144508243	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:144508243G>A	ENST00000367568.4	+	2	662	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	160					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)	p.R160H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TGCAAGATCCGCATCCAGCGC	0.592									Familial Hemophagocytic Lymphohistiocytosis																												p.R160H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G479A	6						.						50.0	49.0	49.0					6																	144508243		2203	4300	6503	144549936	SO:0001583	missense	8676	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.479G>A	6.37:g.144508243G>A	ENSP00000356540:p.Arg160His		144549936	NM_003764	E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578019	0.86645	.	.	ENSG00000135604	ENST00000367568	T	0.23950	1.88	5.61	5.61	0.85477	t-SNARE (1);	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	M	0.80982	2.52	0.80722	D	1	P	0.51351	0.944	B	0.43680	0.427	T	0.20874	-1.0262	10	0.49607	T	0.09	-21.5685	19.2487	0.93913	0.0:0.0:1.0:0.0	.	160	O75558	STX11_HUMAN	H	160	ENSP00000356540:R160H	ENSP00000356540:R160H	R	+	2	0	STX11	144549936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.799000	0.99117	2.631000	0.89168	0.655000	0.94253	CGC		0.592	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1		
KATNA1	11104	broad.mit.edu	37	6	149922871	149922871	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:149922871G>A	ENST00000335647.5	-	6	791	c.747C>T	c.(745-747)ggC>ggT	p.G249G	KATNA1_ENST00000335643.8_Silent_p.G173G|KATNA1_ENST00000367411.2_Silent_p.G249G|KATNA1_ENST00000494504.1_5'UTR					katanin p60 (ATPase containing) subunit A 1									p.G249G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		TGCCAGGTGGGCCGACCATCA	0.418																																					p.G249G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C747T	6						.						89.0	82.0	84.0					6																	149922871		2203	4300	6503	149964564	SO:0001819	synonymous_variant	11104	exon6			AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.747C>T	6.37:g.149922871G>A			149964564	NM_007044		Silent	SNP	ENST00000335647.5	37	CCDS5217.1																																																																																				0.418	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044	
RAET1G	353091	broad.mit.edu	37	6	150240885	150240885	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:150240885C>T	ENST00000367360.2	-	2	220	c.153G>A	c.(151-153)gcG>gcA	p.A51A	RAET1E-AS1_ENST00000605899.1_RNA|RAET1G_ENST00000479265.1_Silent_p.A51A|RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G									p.A51A(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GGCCTTGAACCGCACACCACC	0.532																																					p.A51A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G153A	6						.						101.0	102.0	102.0					6																	150240885		2203	4297	6500	150282578	SO:0001819	synonymous_variant	353091	exon2			AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.153G>A	6.37:g.150240885C>T			150282578	NM_001001788		Silent	SNP	ENST00000367360.2	37	CCDS43514.1																																																																																				0.532	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2		
SYNE1	23345	broad.mit.edu	37	6	152532698	152532698	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:152532698C>T	ENST00000367255.5	-	124	23121	c.22520G>A	c.(22519-22521)cGt>cAt	p.R7507H	SYNE1_ENST00000423061.1_Missense_Mutation_p.R7436H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7507H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7436H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2031H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7119H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7507					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.R7507H(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)		AATCTGCTGACGACTGAACAT	0.333										HNSCC(10;0.0054)																											p.R2031H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6092A	6						.						85.0	83.0	84.0					6																	152532698		2203	4300	6503	152574391	SO:0001583	missense	23345	exon39			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22520G>A	6.37:g.152532698C>T	ENSP00000356224:p.Arg7507His		152574391	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968388	0.92855	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000009	T	0.51176	0.1659	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	T	0.46735	-0.9170	10	0.52906	T	0.07	.	20.0274	0.97527	0.0:1.0:0.0:0.0	.	7507;7507;7436;7436	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	H	7507;153;7436;7507;7436;7119;2031;429	ENSP00000356224:R7507H;ENSP00000356226:R153H;ENSP00000396024:R7436H;ENSP00000265368:R7507H;ENSP00000390975:R7436H;ENSP00000341887:R7119H;ENSP00000349276:R2031H;ENSP00000356220:R429H	ENSP00000265368:R7507H	R	-	2	0	SYNE1	152574391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.721000	0.84768	2.798000	0.96311	0.557000	0.71058	CGT		0.333	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
TIAM2	26230	broad.mit.edu	37	6	155450636	155450636	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:155450636G>A	ENST00000461783.3	+	6	1552	c.279G>A	c.(277-279)acG>acA	p.T93T	TIAM2_ENST00000360366.4_Silent_p.T93T|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Silent_p.T93T|TIAM2_ENST00000529824.2_Silent_p.T93T|TIAM2_ENST00000456144.1_Silent_p.T93T			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	93					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T93T(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCTACTCCACGCACAGGACAA	0.552																																					p.T93T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G279A	6						.						70.0	64.0	66.0					6																	155450636		2203	4300	6503	155492328	SO:0001819	synonymous_variant	26230	exon3				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.279G>A	6.37:g.155450636G>A			155492328	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																				0.552	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
TAGAP	117289	broad.mit.edu	37	6	159456924	159456924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:159456924G>A	ENST00000367066.3	-	10	2462	c.2131C>T	c.(2131-2133)Cga>Tga	p.R711*	RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Nonsense_Mutation_p.R533*|RP1-111C20.4_ENST00000606470.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	711					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.R711*(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)		CTACATCGTCGCACGAGACAG	0.572																																					p.R711X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2131T	6						.						68.0	62.0	64.0					6																	159456924		2203	4300	6503	159376912	SO:0001587	stop_gained	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.2131C>T	6.37:g.159456924G>A	ENSP00000356033:p.Arg711*		159376912	NM_054114	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Nonsense_Mutation	SNP	ENST00000367066.3	37	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	41	8.771134	0.98948	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	.	.	.	5.82	-5.39	0.02664	.	0.573271	0.16820	N	0.198182	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1856	6.9636	0.24611	0.0564:0.1573:0.2893:0.497	.	.	.	.	X	711;533	.	ENSP00000322650:R533X	R	-	1	2	TAGAP	159376912	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.397000	0.20883	-0.505000	0.06568	-0.309000	0.09137	CGA		0.572	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114	
TAGAP	117289	broad.mit.edu	37	6	159457699	159457699	+	Silent	SNP	C	C	T	rs560834483		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:159457699C>T	ENST00000367066.3	-	10	1687	c.1356G>A	c.(1354-1356)ccG>ccA	p.P452P	RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Silent_p.P274P|RP1-111C20.4_ENST00000606470.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	452					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.P452P(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)		CCAGTGCCCGCGGGAGCACCG	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14974	0.0		0.0	False		,,,				2504	0.0				p.P452P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1356A	6						.						75.0	84.0	81.0					6																	159457699		2203	4300	6503	159377687	SO:0001819	synonymous_variant	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.1356G>A	6.37:g.159457699C>T			159377687	NM_054114	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	CCDS5261.1																																																																																				0.577	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114	
IGF2R	3482	broad.mit.edu	37	6	160494305	160494305	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:160494305T>C	ENST00000356956.1	+	34	4899	c.4751T>C	c.(4750-4752)gTg>gCg	p.V1584A		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1584					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.V1584A(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)	CTGAGATACGTGGACCAGGTC	0.557																																					p.V1584A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4751C	6						.						178.0	142.0	154.0					6																	160494305		2203	4300	6503	160414295	SO:0001583	missense	3482	exon34			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.4751T>C	6.37:g.160494305T>C	ENSP00000349437:p.Val1584Ala		160414295	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	T	0.395	-0.921422	0.02396	.	.	ENSG00000197081	ENST00000356956	T	0.01981	4.52	5.3	-3.54	0.04653	Mannose-6-phosphate receptor, binding (1);	0.780830	0.12177	N	0.492462	T	0.00496	0.0016	L	0.45581	1.43	0.25361	N	0.988787	B	0.02656	0.0	B	0.06405	0.002	T	0.49031	-0.8981	10	0.06494	T	0.89	-9.5889	4.7369	0.12993	0.3743:0.2751:0.0:0.3506	.	1584	P11717	MPRI_HUMAN	A	1584	ENSP00000349437:V1584A	ENSP00000349437:V1584A	V	+	2	0	IGF2R	160414295	0.975000	0.34042	0.989000	0.46669	0.161000	0.22273	0.440000	0.21592	-0.812000	0.04363	-0.441000	0.05720	GTG		0.557	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
MAP3K4	4216	broad.mit.edu	37	6	161469968	161469968	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:161469968C>T	ENST00000392142.4	+	3	812	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	MAP3K4_ENST00000366919.2_Missense_Mutation_p.R222C|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R222C|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R222C	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	222					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.R222C(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCCAGCAGATCGTTTAAAGTT	0.448																																					p.R222C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C664T	6						.						40.0	39.0	39.0					6																	161469968		2203	4300	6503	161389958	SO:0001583	missense	4216	exon3			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.664C>T	6.37:g.161469968C>T	ENSP00000375986:p.Arg222Cys		161389958	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466143	0.84425	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	D;D;D;D	0.93366	-3.1;-3.21;-3.17;-3.07	6.14	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.95953	0.8682	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96658	0.9487	10	0.87932	D	0	-24.2205	17.0824	0.86602	0.1277:0.8722:0.0:0.0	.	222;222	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	C	222	ENSP00000355886:R222C;ENSP00000375986:R222C;ENSP00000355887:R222C;ENSP00000297332:R222C	ENSP00000297332:R222C	R	+	1	0	MAP3K4	161389958	1.000000	0.71417	0.966000	0.40874	0.962000	0.63368	4.524000	0.60552	1.606000	0.50161	0.637000	0.83480	CGT		0.448	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
GMPR	2766	broad.mit.edu	37	6	16286037	16286037	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:16286037C>T	ENST00000259727.4	+	7	782	c.668C>T	c.(667-669)aCg>aTg	p.T223M		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	223					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.T223R(1)|p.T223M(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GGAGGCTGTACGTGTCCAGGG	0.612											OREG0017214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T223M												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C668T	6						.						91.0	66.0	74.0					6																	16286037		2203	4300	6503	16394016	SO:0001583	missense	2766	exon7				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.668C>T	6.37:g.16286037C>T	ENSP00000259727:p.Thr223Met	709	16394016	NM_006877	Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907475	0.52333	.	.	ENSG00000137198	ENST00000259727	T	0.79033	-1.23	4.9	4.9	0.64082	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.087292	0.85682	D	0.000000	D	0.86280	0.5895	M	0.91920	3.255	0.42701	D	0.993615	D	0.71674	0.998	P	0.60415	0.874	D	0.88813	0.3293	10	0.72032	D	0.01	-2.5393	12.5921	0.56449	0.0:0.6937:0.3063:0.0	.	223	P36959	GMPR1_HUMAN	M	223	ENSP00000259727:T223M	ENSP00000259727:T223M	T	+	2	0	GMPR	16394016	0.993000	0.37304	0.968000	0.41197	0.581000	0.36288	2.425000	0.44723	2.547000	0.85894	0.655000	0.94253	ACG		0.612	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2		
ATXN1	6310	broad.mit.edu	37	6	16327059	16327059	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:16327059C>T	ENST00000244769.4	-	8	2419	c.1483G>A	c.(1483-1485)Ggc>Agc	p.G495S	ATXN1_ENST00000436367.1_Missense_Mutation_p.G495S	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	495	Self-association.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.G495S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TCAGTGCTGCCGACCGGGATG	0.667																																					p.G495S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1483A	6						.						73.0	87.0	82.0					6																	16327059		2203	4300	6503	16435038	SO:0001583	missense	6310	exon8			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1483G>A	6.37:g.16327059C>T	ENSP00000244769:p.Gly495Ser		16435038	NM_000332	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413395	0.25465	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.73363	-0.74;-0.74	4.86	4.86	0.63082	.	0.044341	0.85682	D	0.000000	T	0.65417	0.2689	N	0.08118	0	0.49915	D	0.999831	D	0.89917	1.0	D	0.91635	0.999	T	0.68051	-0.5511	10	0.21014	T	0.42	-21.5975	17.9977	0.89189	0.0:1.0:0.0:0.0	.	495	P54253	ATX1_HUMAN	S	495	ENSP00000244769:G495S;ENSP00000416360:G495S	ENSP00000244769:G495S	G	-	1	0	ATXN1	16435038	1.000000	0.71417	0.467000	0.27180	0.766000	0.43426	5.639000	0.67868	2.241000	0.73720	0.561000	0.74099	GGC		0.667	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
ATXN1	6310	broad.mit.edu	37	6	16327462	16327462	+	Silent	SNP	G	G	A	rs199716501		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:16327462G>A	ENST00000244769.4	-	8	2016	c.1080C>T	c.(1078-1080)caC>caT	p.H360H	ATXN1_ENST00000436367.1_Silent_p.H360H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	360					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H360H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGACCACCACGTGCCTGGACT	0.677																																					p.H360H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1080T	6						.	G	,	0,4406		0,0,2203	76.0	86.0	82.0		1080,1080	-1.2	1.0	6		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ATXN1	NM_000332.3,NM_001128164.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	360/816,360/816	16327462	1,13005	2203	4300	6503	16435441	SO:0001819	synonymous_variant	6310	exon8			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1080C>T	6.37:g.16327462G>A			16435441	NM_000332	Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	CCDS34342.1																																																																																				0.677	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
AGPAT4	56895	broad.mit.edu	37	6	161587297	161587297	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:161587297G>A	ENST00000320285.4	-	3	543	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000366906.5_Missense_Mutation_p.R49C|AGPAT4_ENST00000366908.5_Missense_Mutation_p.R111C|AGPAT4_ENST00000366905.3_Missense_Mutation_p.R111C	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	111					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R111C(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		AGCCCAAAGCGTTCGGACAGG	0.522																																					p.R111C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C331T	6						.						67.0	56.0	60.0					6																	161587297		2203	4300	6503	161507287	SO:0001583	missense	56895	exon3			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.331C>T	6.37:g.161587297G>A	ENSP00000314036:p.Arg111Cys		161507287	NM_020133	B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879557	0.51801	.	.	ENSG00000026652	ENST00000320285;ENST00000366908;ENST00000366906;ENST00000366905	D;D	0.92397	-3.03;-3.03	4.74	4.74	0.60224	Phospholipid/glycerol acyltransferase (2);	0.103621	0.64402	D	0.000008	D	0.95765	0.8622	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.954	D	0.96013	0.9003	10	0.87932	D	0	-22.862	10.9335	0.47233	0.0:0.0:0.6775:0.3225	.	111;111	B4DHC0;Q9NRZ5	.;PLCD_HUMAN	C	111;111;49;111	ENSP00000314036:R111C;ENSP00000355873:R49C	ENSP00000314036:R111C	R	-	1	0	AGPAT4	161507287	1.000000	0.71417	0.961000	0.40146	0.532000	0.34746	3.578000	0.53892	2.466000	0.83321	0.650000	0.86243	CGC		0.522	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133	
FRMD1	79981	broad.mit.edu	37	6	168462502	168462502	+	Missense_Mutation	SNP	G	G	A	rs372041975		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:168462502G>A	ENST00000283309.6	-	8	1094	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	FRMD1_ENST00000440994.2_Missense_Mutation_p.R276W|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Missense_Mutation_p.R115W	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	344	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.R344W(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		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)		GCCTCCTCCCGCTGCCGCAGC	0.711																																					p.R276W	GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C826T	6						.	G	TRP/ARG,TRP/ARG	1,4367		0,1,2183	10.0	12.0	11.0		826,1030	2.2	0.6	6		11	0,8556		0,0,4278	no	missense,missense	FRMD1	NM_001122841.1,NM_024919.3	101,101	0,1,6461	AA,AG,GG		0.0,0.0229,0.0077	probably-damaging,probably-damaging	276/482,344/550	168462502	1,12923	2184	4278	6462	168205351	SO:0001583	missense	79981	exon8				CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1030C>T	6.37:g.168462502G>A	ENSP00000283309:p.Arg344Trp		168205351	NM_001122841	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847246	0.32606	2.29E-4	0.0	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	D;D;D	0.82081	-1.57;-1.57;-1.57	2.23	2.23	0.28157	FERM domain (1);	0.327137	0.20311	U	0.094830	T	0.80297	0.4597	L	0.52573	1.65	0.29197	N	0.875455	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	P;D;D;P	0.67103	0.889;0.937;0.949;0.889	T	0.71576	-0.4551	10	0.66056	D	0.02	.	7.7936	0.29135	0.0:0.0:0.7521:0.2479	.	279;344;276;239	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	W	344;276;115	ENSP00000283309:R344W;ENSP00000414115:R276W;ENSP00000440078:R115W	ENSP00000283309:R344W	R	-	1	2	FRMD1	168205351	0.996000	0.38824	0.638000	0.29380	0.055000	0.15305	2.457000	0.45005	1.254000	0.44035	0.313000	0.20887	CGG		0.711	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919	
DLL1	28514	broad.mit.edu	37	6	170597495	170597495	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:170597495G>A	ENST00000366756.3	-	4	835	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	168					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.R168C(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGGTCCGTGCGGCCGCTGCTG	0.632																																					p.R168C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C502T	6						.						66.0	54.0	58.0					6																	170597495		2203	4300	6503	170439420	SO:0001583	missense	28514	exon4			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.502C>T	6.37:g.170597495G>A	ENSP00000355718:p.Arg168Cys		170439420	NM_005618	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690194	0.68271	.	.	ENSG00000198719	ENST00000366756	D	0.96300	-3.97	4.48	4.48	0.54585	Delta/Serrate/lag-2 (DSL) protein (2);	0.000000	0.85682	D	0.000000	D	0.96691	0.8920	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.65874	0.877;0.939	D	0.95484	0.8563	10	0.31617	T	0.26	.	17.3763	0.87392	0.0:0.0:1.0:0.0	.	168;168	B5M0B3;O00548	.;DLL1_HUMAN	C	168	ENSP00000355718:R168C	ENSP00000355718:R168C	R	-	1	0	DLL1	170439420	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	4.271000	0.58902	2.328000	0.79073	0.563000	0.77884	CGC		0.632	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1		
NQO2	4835	broad.mit.edu	37	6	3012826	3012826	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:3012826A>G	ENST00000338130.2	+	7	933	c.221A>G	c.(220-222)gAa>gGa	p.E74G	NQO2_ENST00000380441.1_Missense_Mutation_p.E74G|NQO2_ENST00000380454.4_Missense_Mutation_p.E74G|NQO2_ENST00000380430.1_Missense_Mutation_p.E74G|NQO2_ENST00000380455.4_Missense_Mutation_p.E74G			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	74					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)	p.E74G(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	GAAACCCACGAAGCCTACAAG	0.473																																					p.E74G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A221G	6						.						123.0	120.0	121.0					6																	3012826		2203	4300	6503	2957825	SO:0001583	missense	4835	exon4			U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"""NAD(P)H menadione oxidoreductase 2, dioxin-inducible"""	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.221A>G	6.37:g.3012826A>G	ENSP00000337773:p.Glu74Gly		2957825	NM_000904	B2R492|Q5TD04	Missense_Mutation	SNP	ENST00000338130.2	37	CCDS4481.1	.	.	.	.	.	.	.	.	.	.	A	9.343	1.063484	0.20067	.	.	ENSG00000124588	ENST00000380472;ENST00000538898;ENST00000397717;ENST00000338130;ENST00000380441;ENST00000380455;ENST00000380454;ENST00000380430	T;T;T;T;T;T;T	0.09911	2.93;2.93;3.13;3.13;3.13;3.13;3.13	5.65	4.44	0.53790	Flavodoxin-like fold (1);	0.611219	0.18193	N	0.148752	T	0.14917	0.0360	M	0.67569	2.06	0.09310	N	1	B;D	0.64830	0.194;0.994	B;P	0.61328	0.18;0.887	T	0.02610	-1.1134	9	.	.	.	-26.746	10.8835	0.46953	0.8606:0.0:0.0:0.1394	.	74;121	P16083;Q59EN2	NQO2_HUMAN;.	G	74;121;74;74;74;74;74;74	ENSP00000369839:E74G;ENSP00000380829:E74G;ENSP00000337773:E74G;ENSP00000369806:E74G;ENSP00000369822:E74G;ENSP00000369821:E74G;ENSP00000369795:E74G	.	E	+	2	0	NQO2	2957825	0.000000	0.05858	0.961000	0.40146	0.286000	0.27126	0.457000	0.21875	2.149000	0.67028	0.533000	0.62120	GAA		0.473	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039651.1		
TUBB2A	7280	broad.mit.edu	37	6	3154186	3154186	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:3154186C>T	ENST00000333628.3	-	4	1311	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	RP1-40E16.11_ENST00000447644.1_RNA|TUBB2A_ENST00000489942.1_5'Flank	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	417					'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.D417N(1)		endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GACACCAGGTCGTTCATGTTG	0.612																																					p.D417N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1249A	6						.						75.0	63.0	68.0					6																	3154186		2202	4279	6481	3099185	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.1249G>A	6.37:g.3154186C>T	ENSP00000369703:p.Asp417Asn		3099185	NM_001069	Q6FGZ8|Q8IWR2	Missense_Mutation	SNP	ENST00000333628.3	37	CCDS4484.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687240	0.68157	.	.	ENSG00000137267	ENST00000333628;ENST00000392362	T	0.72835	-0.69	4.96	4.96	0.65561	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.56097	U	0.000024	D	0.83128	0.5187	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	P;D;D	0.87578	0.744;0.998;0.998	D	0.85570	0.1233	10	0.87932	D	0	.	18.563	0.91107	0.0:1.0:0.0:0.0	.	417;417;417	B2R6L0;Q13885;Q8N6N5	.;TBB2A_HUMAN;.	N	417;327	ENSP00000369703:D417N	ENSP00000369703:D417N	D	-	1	0	TUBB2A	3099185	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.662000	0.83803	2.468000	0.83385	0.555000	0.69702	GAC		0.612	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039662.1	NM_001069	
FAM50B	26240	broad.mit.edu	37	6	3850707	3850707	+	Missense_Mutation	SNP	G	G	A	rs369953711		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:3850707G>A	ENST00000380274.1	+	1	1088	c.662G>A	c.(661-663)cGc>cAc	p.R221H	FAM50B_ENST00000380272.3_Missense_Mutation_p.R221H			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	221						nucleus (GO:0005634)		p.R221H(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CAGGGGCTGCGCAAGGACTTC	0.642																																					p.R221H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G662A	6						.	G	HIS/ARG	0,4406		0,0,2203	42.0	43.0	43.0		662	4.9	1.0	6		43	1,8597	1.2+/-3.3	0,1,4298	no	missense	FAM50B	NM_012135.1	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	221/326	3850707	1,13003	2203	4299	6502	3795706	SO:0001583	missense	26240	exon2			Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.662G>A	6.37:g.3850707G>A	ENSP00000369627:p.Arg221His		3795706	NM_012135	Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153547	0.94645	0.0	1.16E-4	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	M	0.84219	2.685	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.77273	-0.2649	9	0.44086	T	0.13	-24.3921	15.9418	0.79758	0.0:0.0:1.0:0.0	.	221	Q9Y247	FA50B_HUMAN	H	221	.	ENSP00000369625:R221H	R	+	2	0	FAM50B	3795706	1.000000	0.71417	0.980000	0.43619	0.995000	0.86356	4.327000	0.59247	2.430000	0.82344	0.555000	0.69702	CGC		0.642	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135	
KIF13A	63971	broad.mit.edu	37	6	17834270	17834270	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:17834270G>A	ENST00000259711.6	-	12	1293	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	KIF13A_ENST00000378843.2_Silent_p.L396L|KIF13A_ENST00000378826.2_Silent_p.L396L|KIF13A_ENST00000378816.5_Silent_p.L396L|KIF13A_ENST00000378814.5_Silent_p.L396L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	396					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L396L(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAGACTCTTCGAGCTTCTCCT	0.383																																					p.L396L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1188T	6						.						113.0	101.0	104.0					6																	17834270		1822	4077	5899	17942249	SO:0001819	synonymous_variant	63971	exon12			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1188C>T	6.37:g.17834270G>A			17942249	NM_022113	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	CCDS47381.1																																																																																				0.383	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
BTN3A1	11119	broad.mit.edu	37	6	26409843	26409843	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:26409843C>T	ENST00000289361.6	+	5	1166	c.798C>T	c.(796-798)gcC>gcT	p.A266A	BTN3A1_ENST00000414912.2_Silent_p.A214A|BTN3A1_ENST00000476549.2_Silent_p.A266A|BTN3A1_ENST00000425234.2_Silent_p.A266A	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	266					activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A266A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTGGGGGAGCCGGTTACTTCC	0.552																																					p.A266A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C798T	6						.						63.0	70.0	68.0					6																	26409843		2203	4300	6503	26517822	SO:0001819	synonymous_variant	11119	exon5			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.798C>T	6.37:g.26409843C>T			26517822	NM_001145009	A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Silent	SNP	ENST00000289361.6	37	CCDS4608.1																																																																																				0.552	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3		
TUBB	203068	broad.mit.edu	37	6	30691451	30691451	+	Silent	SNP	C	C	T	rs141142574		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:30691451C>T	ENST00000327892.8	+	4	918	c.612C>T	c.(610-612)aaC>aaT	p.N204N	XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000330914.3_Silent_p.N132N|TUBB_ENST00000396384.1_Silent_p.N132N|TUBB_ENST00000396389.1_Silent_p.N186N|TUBB_ENST00000435534.1_Intron	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	204					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.N204N(1)		breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GCATTGACAACGAGGCCCTCT	0.527																																					p.N204N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C612T	6						.	C		2,4404	4.2+/-10.8	0,2,2201	98.0	88.0	92.0		612	-1.1	1.0	6	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TUBB	NM_178014.2		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		204/445	30691451	3,13003	2203	4300	6503	30799430	SO:0001819	synonymous_variant	203068	exon4			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.612C>T	6.37:g.30691451C>T			30799430	NM_178014	P05218|Q8WUC1|Q9CY33	Silent	SNP	ENST00000327892.8	37	CCDS4687.1																																																																																				0.527	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014	
ABHD16A	7920	broad.mit.edu	37	6	31655018	31655018	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:31655018delG	ENST00000395952.3	-	20	1810	c.1648delC	c.(1648-1650)cagfs	p.Q550fs	XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000375842.4_Frame_Shift_Del_p.Q331fs|ABHD16A_ENST00000471644.1_5'Flank|ABHD16A_ENST00000440843.2_Frame_Shift_Del_p.Q517fs	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	550						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.Q550fs*>9(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TGGAAGTTCTGGGCTGGGAGT	0.547																																					p.Q517fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1549delC	6						.						91.0	62.0	72.0					6																	31655018		1511	2709	4220	31762997	SO:0001589	frameshift_variant	7920	exon18			AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.1648delC	6.37:g.31655018delG	ENSP00000379282:p.Gln550fs		31762997	NM_001177515	A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Frame_Shift_Del	DEL	ENST00000395952.3	37	CCDS4713.1																																																																																				0.547	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4		
EHMT2	10919	broad.mit.edu	37	6	31854575	31854575	+	Missense_Mutation	SNP	G	G	A	rs144112397		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:31854575G>A	ENST00000375537.4	-	17	2224	c.2218C>T	c.(2218-2220)Cgt>Tgt	p.R740C	EHMT2_ENST00000395728.3_Missense_Mutation_p.R797C|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.R706C|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Missense_Mutation_p.R763C	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	740					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.R740C(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGCCACCACGCTGCACCATG	0.617																																					p.R706C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2116T	6						.	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	137.0	122.0	127.0		2218,2116	4.5	1.0	6	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EHMT2	NM_006709.3,NM_025256.5	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	740/1211,706/1177	31854575	1,13005	2203	4300	6503	31962554	SO:0001583	missense	10919	exon16			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2218C>T	6.37:g.31854575G>A	ENSP00000364687:p.Arg740Cys		31962554	NM_025256	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.74|11.74	1.727740|1.727740	0.30593|0.30593	0.0|0.0	1.16E-4|1.16E-4	ENSG00000204371|ENSG00000204371	ENST00000436026|ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	.|T;T;T;T	.|0.65732	.|-0.17;-0.17;-0.17;-0.17	5.36|5.36	4.48|4.48	0.54585|0.54585	.|Ankyrin repeat-containing domain (3);	.|0.323123	.|0.33477	.|N	.|0.004877	T|T	0.24890|0.24890	0.0604|0.0604	N|N	0.20328|0.20328	0.56|0.56	0.37446|0.37446	D|D	0.914631|0.914631	.|B;B;B;B	.|0.25441	.|0.126;0.026;0.003;0.001	.|B;B;B;B	.|0.26517	.|0.07;0.042;0.009;0.005	T|T	0.10086|0.10086	-1.0645|-1.0645	5|10	.|0.33940	.|T	.|0.23	.|.	5.5415|5.5415	0.17041|0.17041	0.166:0.0:0.6748:0.1591|0.166:0.0:0.6748:0.1591	.|.	.|763;706;740;554	.|A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.|.;.;EHMT2_HUMAN;.	V|C	57|797;763;706;740;554	.|ENSP00000379078:R797C;ENSP00000364678:R763C;ENSP00000364680:R706C;ENSP00000364687:R740C	.|ENSP00000364678:R763C	A|R	-|-	2|1	0|0	EHMT2|EHMT2	31962554|31962554	0.322000|0.322000	0.24634|0.24634	0.953000|0.953000	0.39169|0.39169	0.932000|0.932000	0.56968|0.56968	0.869000|0.869000	0.27996|0.27996	1.209000|1.209000	0.43321|0.43321	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.617	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709	
HLA-DQB1	3119	broad.mit.edu	37	6	32629870	32629870	+	Frame_Shift_Del	DEL	G	G	-	rs9273971		TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:32629870delG	ENST00000399082.3	-	2	309	c.265delC	c.(265-267)cttfs	p.L89fs	HLA-DQB1_ENST00000399084.1_Frame_Shift_Del_p.L179fs|HLA-DQB1_ENST00000374943.4_Frame_Shift_Del_p.L179fs|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1-AS1_ENST00000419852.1_RNA|HLA-DQB1_ENST00000434651.2_Frame_Shift_Del_p.L179fs|HLA-DQB1_ENST00000399079.3_Frame_Shift_Del_p.L179fs|HLA-DQB1_ENST00000460185.1_5'Flank			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	179	Beta-1.		D -> A (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:04, allele DQB1*02:05, allele DQB1*03:02, allele DQB1*03:04, allele DQB1*03:05, allele DQB1*03:07, allele DQB1*03:08, allele DQB1*03:11, allele DQB1*03:14, allele DQB1*03:18 and allele DQB1*06:29; dbSNP:rs1071637).|D -> S (in allele DQB1*05:02, allele DQB1*05:04, allele DQB1*05:05, allele DQB1*06:10 and allele DQB1*06:25; requires 2 nucleotide substitutions).|D -> V (in allele DQB1*05:01, allele DQB1*06:04, allele DQB1*06:05, allele DQB1*06:06, allele DQB1*06:08, allele DQB1*06:09, allele DQB1*06:12, allele DQB1*06:13, allele DQB1*06:17, allele DQB1*06:18, allele DQB1*06:21, allele DQB1*06:22, allele DQB1*06:27, allele DQB1*06:34, allele DQB1*06:36, allele DQB1*06:38 and allele DQB1*06:39).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|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)|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)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.I180fs*12(1)		breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	TTCCTAATAAGGGGGGTGGAC	0.562									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												p.L179fs	Esophageal Squamous(151;720 1825 15000 40336 43415)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.535delC	6						.						52.0	56.0	55.0					6																	32629870		2197	4299	6496	32737848	SO:0001589	frameshift_variant	3119	exon3	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.265delC	6.37:g.32629870delG	ENSP00000382032:p.Leu89fs		32737848	NM_002123	A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Frame_Shift_Del	DEL	ENST00000399082.3	37																																																																																					0.562	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123	
SLC39A7	7922	broad.mit.edu	37	6	33171324	33171324	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:33171324C>T	ENST00000374677.3	+	7	1517	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000413614.2_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.R382C|RXRB_ENST00000374685.4_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	382					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)	p.R382C(2)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TCAGGCGATGCGTCTGCAACT	0.527																																					p.R382C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1144T	6						.						65.0	64.0	64.0					6																	33171324		1986	4149	6135	33279302	SO:0001583	missense	7922	exon7			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1144C>T	6.37:g.33171324C>T	ENSP00000363809:p.Arg382Cys		33279302	NM_006979	B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	37	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462329	0.26248	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.48522	0.81;0.81	4.96	4.09	0.47781	.	0.319926	0.31290	N	0.007919	T	0.13157	0.0319	N	0.16166	0.38	0.45066	D	0.998087	B;B	0.18863	0.031;0.03	B;B	0.18561	0.022;0.004	T	0.06023	-1.0850	10	0.38643	T	0.18	-8.6378	6.23	0.20730	0.1829:0.7239:0.0:0.0932	.	363;382	B4DVK8;Q92504	.;S39A7_HUMAN	C	382;363;287;382	ENSP00000363807:R382C;ENSP00000363809:R382C	ENSP00000363807:R382C	R	+	1	0	SLC39A7	33279302	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.272000	0.33109	1.316000	0.45131	0.549000	0.68633	CGT		0.527	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979	
ITPR3	3710	broad.mit.edu	37	6	33657104	33657104	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:33657104C>T	ENST00000374316.5	+	51	7844	c.6784C>T	c.(6784-6786)Cgc>Tgc	p.R2262C	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2262C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2262					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.R2262C(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTACAGCATCCGCCCCCTCAT	0.612																																					p.R2262C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6784T	6						.						140.0	118.0	125.0					6																	33657104		2203	4300	6503	33765082	SO:0001583	missense	3710	exon50			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6784C>T	6.37:g.33657104C>T	ENSP00000363435:p.Arg2262Cys		33765082	NM_002224	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320049	0.81469	.	.	ENSG00000096433	ENST00000374316	D	0.92348	-3.02	5.31	5.31	0.75309	.	0.107756	0.64402	D	0.000005	D	0.94984	0.8377	M	0.82517	2.595	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;P	0.67725	0.953;0.88	D	0.95094	0.8224	10	0.87932	D	0	-28.6017	11.873	0.52531	0.2908:0.7092:0.0:0.0	.	2262;1932	Q14573;Q59ES2	ITPR3_HUMAN;.	C	2262	ENSP00000363435:R2262C	ENSP00000363435:R2262C	R	+	1	0	ITPR3	33765082	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.611000	0.54132	2.768000	0.95171	0.561000	0.74099	CGC		0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
PACSIN1	29993	broad.mit.edu	37	6	34496557	34496557	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:34496557C>T	ENST00000538621.1	+	4	604	c.359C>T	c.(358-360)gCc>gTc	p.A120V	PACSIN1_ENST00000244458.2_Missense_Mutation_p.A120V|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000374043.2_Missense_Mutation_p.A78V	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	120	F-BAR domain.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)	p.A120V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CAGAAGGACGCCTATCACAAG	0.537																																					p.A120V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C359T	6						.						178.0	160.0	166.0					6																	34496557		2203	4300	6503	34604535	SO:0001583	missense	29993	exon4			AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.359C>T	6.37:g.34496557C>T	ENSP00000439639:p.Ala120Val		34604535	NM_020804	Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	37	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	c	17.62	3.435513	0.62955	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.54866	0.73;0.55;0.73	4.05	4.05	0.47172	.	0.464724	0.22716	N	0.056510	T	0.29914	0.0748	M	0.82630	2.6	0.58432	D	0.999999	P	0.46457	0.878	B	0.25405	0.06	T	0.33445	-0.9868	10	0.15952	T	0.53	-7.2376	12.3349	0.55060	0.0:0.8292:0.1708:0.0	.	120	Q9BY11	PACN1_HUMAN	V	120;78;120;120	ENSP00000244458:A120V;ENSP00000363155:A78V;ENSP00000439639:A120V	ENSP00000244458:A120V	A	+	2	0	PACSIN1	34604535	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	4.743000	0.62110	2.253000	0.74438	0.450000	0.29827	GCC		0.537	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1		
SRPK1	6732	broad.mit.edu	37	6	35837473	35837473	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:35837473G>T	ENST00000373825.2	-	11	1482	c.1197C>A	c.(1195-1197)agC>agA	p.S399R	SRPK1_ENST00000373822.1_Missense_Mutation_p.S292R|SRPK1_ENST00000423325.2_Missense_Mutation_p.S383R					SRSF protein kinase 1									p.S399R(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						CATTTTGGGAGCTTAGGAAAC	0.403																																					p.S399R	NSCLC(31;67 978 16289 24856 26454)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1197A	6						.						149.0	141.0	143.0					6																	35837473		1947	4137	6084	35945451	SO:0001583	missense	6732	exon11			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1197C>A	6.37:g.35837473G>T	ENSP00000362931:p.Ser399Arg		35945451	NM_003137		Missense_Mutation	SNP	ENST00000373825.2	37	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	G	8.950	0.967959	0.18659	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822;ENST00000510290	T;T;T;T	0.27890	1.64;1.64;1.64;1.69	5.66	2.89	0.33648	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.08891	0.0220	L	0.32530	0.975	0.37236	D	0.905891	B;B	0.17667	0.0;0.023	B;B	0.20767	0.003;0.031	T	0.11227	-1.0596	9	0.21014	T	0.42	0.0022	8.9517	0.35792	0.306:0.0:0.694:0.0	.	383;399	B4DS61;Q96SB4	.;SRPK1_HUMAN	R	399;415;383;292;137	ENSP00000362931:S399R;ENSP00000354674:S415R;ENSP00000391069:S383R;ENSP00000362928:S292R	ENSP00000354674:S415R	S	-	3	2	SRPK1	35945451	0.552000	0.26505	0.905000	0.35620	0.986000	0.74619	0.581000	0.23819	0.408000	0.25621	-0.140000	0.14226	AGC		0.403	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	
KCTD20	222658	broad.mit.edu	37	6	36452576	36452576	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:36452576delA	ENST00000373731.2	+	7	1333	c.942delA	c.(940-942)ctafs	p.L314fs	KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000536244.1_Frame_Shift_Del_p.L169fs|KCTD20_ENST00000449081.2_Frame_Shift_Del_p.L148fs|KCTD20_ENST00000544295.1_Frame_Shift_Del_p.L68fs	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	314					protein homooligomerization (GO:0051260)			p.N316fs*64(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						AACGGGGCCTAAAAAACATTC	0.343																																					p.L314fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.942delA	6						.						103.0	115.0	111.0					6																	36452576		2203	4300	6503	36560554	SO:0001589	frameshift_variant	222658	exon7			BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.942delA	6.37:g.36452576delA	ENSP00000362836:p.Leu314fs		36560554	NM_173562	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Frame_Shift_Del	DEL	ENST00000373731.2	37	CCDS4821.1																																																																																				0.343	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562	
PGC	5225	broad.mit.edu	37	6	41712186	41712186	+	Missense_Mutation	SNP	C	C	T	rs531970409		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:41712186C>T	ENST00000373025.3	-	3	339	c.277G>A	c.(277-279)Ggc>Agc	p.G93S	PGC_ENST00000425343.2_Missense_Mutation_p.G93S	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	93					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.G93S(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TTGGAGGAGCCGGTGTCAAAA	0.607																																					p.G93S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G277A	6						.						70.0	71.0	71.0					6																	41712186		2203	4300	6503	41820164	SO:0001583	missense	5225	exon3				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.277G>A	6.37:g.41712186C>T	ENSP00000362116:p.Gly93Ser		41820164	NM_001166424	B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032606	0.75504	.	.	ENSG00000096088	ENST00000373025;ENST00000394278;ENST00000425343	D;D	0.85861	-2.04;-2.04	4.79	4.79	0.61399	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	H	0.98849	4.35	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.97473	1.0042	10	0.87932	D	0	.	17.6692	0.88212	0.0:1.0:0.0:0.0	.	93	P20142	PEPC_HUMAN	S	93	ENSP00000362116:G93S;ENSP00000405094:G93S	ENSP00000362116:G93S	G	-	1	0	PGC	41820164	1.000000	0.71417	0.908000	0.35775	0.127000	0.20565	5.365000	0.66116	2.523000	0.85059	0.585000	0.79938	GGC		0.607	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2		
GUCA1B	2979	broad.mit.edu	37	6	42152642	42152642	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:42152642G>A	ENST00000230361.3	-	4	609	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	172	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				body fluid secretion (GO:0007589)|cell-cell signaling (GO:0007267)|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)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)	p.R172W(1)		large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CACTTGTCCCGACGGGCACCT	0.582																																					p.R172W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C514T	6						.						111.0	100.0	104.0					6																	42152642		2203	4300	6503	42260620	SO:0001583	missense	2979	exon4			AF173227	CCDS4865.1	6p21.1	2013-02-14			ENSG00000112599	ENSG00000112599		"""EF-hand domain containing"""	4679	protein-coding gene	gene with protein product		602275				9119368	Standard	NM_002098		Approved	GCAP2, RP48	uc003orz.3	Q9UMX6	OTTHUMG00000014697	ENST00000230361.3:c.514C>T	6.37:g.42152642G>A	ENSP00000230361:p.Arg172Trp		42260620	NM_002098	Q9NU15	Missense_Mutation	SNP	ENST00000230361.3	37	CCDS4865.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351930	0.61183	.	.	ENSG00000112599	ENST00000230361;ENST00000372949	T	0.56611	0.45	4.12	4.12	0.48240	EF-hand-like domain (1);	0.100234	0.64402	D	0.000008	T	0.60248	0.2254	M	0.78049	2.395	0.30353	N	0.784584	D	0.89917	1.0	D	0.68621	0.959	T	0.59225	-0.7494	10	0.87932	D	0	.	9.9683	0.41738	0.0:0.0:0.7968:0.2032	.	172	Q9UMX6	GUC1B_HUMAN	W	172;164	ENSP00000230361:R172W	ENSP00000230361:R172W	R	-	1	2	GUCA1B	42260620	1.000000	0.71417	0.889000	0.34880	0.979000	0.70002	2.904000	0.48719	2.243000	0.73865	0.655000	0.94253	CGG		0.582	GUCA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040550.1	NM_002098	
CUL9	23113	broad.mit.edu	37	6	43184152	43184152	+	Missense_Mutation	SNP	G	G	A	rs375119455		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:43184152G>A	ENST00000252050.4	+	31	6277	c.6193G>A	c.(6193-6195)Gta>Ata	p.V2065I	CUL9_ENST00000372647.2_Missense_Mutation_p.V2037I|CUL9_ENST00000354495.3_Missense_Mutation_p.V1955I|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2065					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.V2065I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGCTGTACCCGTACGGCCTGA	0.642																																					p.V2065I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6193A	6						.						85.0	80.0	82.0					6																	43184152		2203	4300	6503	43292130	SO:0001583	missense	23113	exon31			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6193G>A	6.37:g.43184152G>A	ENSP00000252050:p.Val2065Ile		43292130	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	9.279	1.047766	0.19827	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.03860	3.78;3.78;3.78	5.7	-11.4	0.00090	.	1.039970	0.07498	N	0.906760	T	0.00936	0.0031	N	0.24115	0.695	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.002	B;B;B	0.06405	0.002;0.001;0.001	T	0.49570	-0.8926	10	0.51188	T	0.08	4.3901	10.6312	0.45538	0.1403:0.1175:0.664:0.0782	.	1955;2037;2065	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	I	2065;1955;2037	ENSP00000252050:V2065I;ENSP00000346490:V1955I;ENSP00000361730:V2037I	ENSP00000252050:V2065I	V	+	1	0	CUL9	43292130	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.244000	0.02902	-2.105000	0.00842	-0.302000	0.09304	GTA		0.642	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
CLIC5	53405	broad.mit.edu	37	6	45870842	45870842	+	Missense_Mutation	SNP	G	G	A	rs202022202		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:45870842G>A	ENST00000185206.6	-	6	1368	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	CLIC5_ENST00000339561.6_Missense_Mutation_p.R247C	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	406					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)	p.R247C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CGGCTGAGGCGTTTGGCGACA	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18634	0.0		0.0	False		,,,				2504	0.0				p.R247C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C739T	6						.						130.0	100.0	111.0					6																	45870842		2203	4300	6503	45978820	SO:0001583	missense	53405	exon6			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.1216C>T	6.37:g.45870842G>A	ENSP00000185206:p.Arg406Cys		45978820	NM_016929	B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	ENST00000185206.6	37	CCDS47438.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858920	0.71834	.	.	ENSG00000112782	ENST00000185206;ENST00000339561	D;D	0.94184	-3.37;-3.37	5.78	4.88	0.63580	Glutathione S-transferase, C-terminal-like (2);	0.000000	0.85682	D	0.000000	D	0.96482	0.8852	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.72982	0.979;0.62	D	0.96630	0.9466	10	0.87932	D	0	.	14.0814	0.64925	0.0:0.0:0.6247:0.3753	.	406;247	Q9NZA1;Q53G01	CLIC5_HUMAN;.	C	406;247	ENSP00000185206:R406C;ENSP00000344165:R247C	ENSP00000185206:R406C	R	-	1	0	CLIC5	45978820	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	3.802000	0.55553	2.731000	0.93534	0.637000	0.83480	CGC		0.562	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1		
TDRD6	221400	broad.mit.edu	37	6	46657764	46657764	+	Silent	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:46657764T>C	ENST00000316081.6	+	1	1899	c.1899T>C	c.(1897-1899)atT>atC	p.I633I	RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Silent_p.I633I|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	633					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.I633I(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)			TCATCCATATTCTTGATAAAC	0.398																																					p.I633I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1899C	6						.						51.0	52.0	52.0					6																	46657764		2203	4300	6503	46765723	SO:0001819	synonymous_variant	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.1899T>C	6.37:g.46657764T>C			46765723	NM_001010870	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	CCDS34470.1																																																																																				0.398	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
BAI3	577	broad.mit.edu	37	6	69665996	69665996	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:69665996C>A	ENST00000370598.1	+	7	2097	c.1276C>A	c.(1276-1278)Cag>Aag	p.Q426K		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	426	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q426K(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGAAGCCGGCAGTGCACTGC	0.542																																					p.Q426K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1276A	6						.						79.0	71.0	73.0					6																	69665996		2203	4300	6503	69722717	SO:0001583	missense	577	exon7			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.1276C>A	6.37:g.69665996C>A	ENSP00000359630:p.Gln426Lys		69722717	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.357995	0.24598	.	.	ENSG00000135298	ENST00000370598	T	0.51325	0.71	5.71	5.71	0.89125	.	0.062767	0.64402	D	0.000004	T	0.08935	0.0221	N	0.01789	-0.72	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23940	-1.0174	10	0.06236	T	0.91	.	15.3429	0.74311	0.0:0.8609:0.1391:0.0	.	426	O60242	BAI3_HUMAN	K	426	ENSP00000359630:Q426K	ENSP00000359630:Q426K	Q	+	1	0	BAI3	69722717	1.000000	0.71417	0.996000	0.52242	0.681000	0.39784	4.817000	0.62650	2.701000	0.92244	0.591000	0.81541	CAG		0.542	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
RIMS1	22999	broad.mit.edu	37	6	73000420	73000420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:73000420delC	ENST00000521978.1	+	25	3593	c.3593delC	c.(3592-3594)gccfs	p.A1198fs	RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000425662.2_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1198					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.P1199fs*46(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGACACGCAGCCCCAAGAGCA	0.468																																					p.A1198fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3593delC	6						.						77.0	77.0	77.0					6																	73000420		1999	4184	6183	73057141	SO:0001589	frameshift_variant	22999	exon25			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3593delC	6.37:g.73000420delC	ENSP00000428417:p.Ala1198fs		73057141	NM_014989	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Frame_Shift_Del	DEL	ENST00000521978.1	37	CCDS47449.1																																																																																				0.468	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
KHDC3L	154288	broad.mit.edu	37	6	74073442	74073442	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:74073442G>A	ENST00000370367.3	+	3	566	c.513G>A	c.(511-513)ccG>ccA	p.P171P		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	171							RNA binding (GO:0003723)	p.P171P(1)									AGGGTTCTCCGGTGGAGGTGC	0.687																																					p.P171P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G513A	6						.						31.0	34.0	33.0					6																	74073442		2203	4300	6503	74130163	SO:0001819	synonymous_variant	154288	exon3			AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.513G>A	6.37:g.74073442G>A			74130163	NM_001017361	B2RNW7	Silent	SNP	ENST00000370367.3	37	CCDS34484.1																																																																																				0.687	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361	
COL12A1	1303	broad.mit.edu	37	6	75875407	75875407	+	Silent	SNP	G	G	A	rs372499120		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:75875407G>A	ENST00000322507.8	-	14	3108	c.2799C>T	c.(2797-2799)cgC>cgT	p.R933R	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.R933R|COL12A1_ENST00000483888.2_Silent_p.R933R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	933	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.R933R(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						CCCTGTAACCGCGAACCATTC	0.413																																					p.R933R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2799T	6						.	G	,	0,3756		0,0,1878	122.0	114.0	116.0		2799,	-10.6	0.5	6		116	1,8209		0,1,4104	no	coding-synonymous,intron	COL12A1	NM_004370.5,NM_080645.2	,	0,1,5982	AA,AG,GG		0.0122,0.0,0.0084	,	933/3064,	75875407	1,11965	1878	4105	5983	75932127	SO:0001819	synonymous_variant	1303	exon14			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.2799C>T	6.37:g.75875407G>A			75932127	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	CCDS43482.1																																																																																				0.413	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
FILIP1	27145	broad.mit.edu	37	6	76022318	76022318	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:76022318C>T	ENST00000237172.7	-	5	3560	c.3230G>A	c.(3229-3231)cGg>cAg	p.R1077Q	FILIP1_ENST00000370020.1_Missense_Mutation_p.R978Q|FILIP1_ENST00000393004.2_Missense_Mutation_p.R1077Q|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1077								p.R1077Q(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCCAGGGGACCGTTTAAACTG	0.473																																					p.R1077Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3230A	6						.						221.0	192.0	202.0					6																	76022318		2203	4300	6503	76079038	SO:0001583	missense	27145	exon5			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3230G>A	6.37:g.76022318C>T	ENSP00000237172:p.Arg1077Gln		76079038	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	2.901	-0.227476	0.06022	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.16196	2.36;2.37;2.38	5.63	5.63	0.86233	.	0.125908	0.53938	D	0.000058	T	0.07683	0.0193	L	0.33485	1.01	0.41867	D	0.990252	D;B;B	0.57571	0.98;0.112;0.097	P;B;B	0.45119	0.47;0.028;0.034	T	0.03008	-1.1083	10	0.02654	T	1	-9.426	19.7021	0.96059	0.0:1.0:0.0:0.0	.	1077;1077;1077	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Q	1077;1077;978	ENSP00000376728:R1077Q;ENSP00000237172:R1077Q;ENSP00000359037:R978Q	ENSP00000237172:R1077Q	R	-	2	0	FILIP1	76079038	1.000000	0.71417	0.999000	0.59377	0.075000	0.17131	4.793000	0.62474	2.661000	0.90470	0.655000	0.94253	CGG		0.473	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
MYO6	4646	broad.mit.edu	37	6	76596648	76596648	+	Silent	SNP	C	C	T	rs150876010	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:76596648C>T	ENST00000369977.3	+	25	2734	c.2595C>T	c.(2593-2595)ccC>ccT	p.P865P	MYO6_ENST00000369985.4_Silent_p.P865P|MYO6_ENST00000369975.1_Silent_p.P865P|MYO6_ENST00000369981.3_Silent_p.P865P	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	865					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.P865P(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ATGGAAAACCCGAGATGAATA	0.333													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		16126	0.0		0.0	False		,,,				2504	0.0				p.P865P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2595T	6						.	C		14,4392	21.2+/-45.6	0,14,2189	81.0	84.0	83.0		2595	-6.5	0.2	6	dbSNP_134	83	0,8598		0,0,4299	no	coding-synonymous	MYO6	NM_004999.3		0,14,6488	TT,TC,CC		0.0,0.3177,0.1077		865/1286	76596648	14,12990	2203	4299	6502	76653368	SO:0001819	synonymous_variant	4646	exon25			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2595C>T	6.37:g.76596648C>T			76653368	NM_004999	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Silent	SNP	ENST00000369977.3	37	CCDS34487.1																																																																																				0.333	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
PHIP	55023	broad.mit.edu	37	6	79707220	79707220	+	Silent	SNP	G	G	A	rs144262648	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:79707220G>A	ENST00000275034.4	-	19	2279	c.2112C>T	c.(2110-2112)aaC>aaT	p.N704N		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	704					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.N704N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTCTTGGTGCGTTGCTGTGCA	0.498																																					p.N704N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2112T	6						.	G		8,4398	14.3+/-33.2	0,8,2195	254.0	218.0	230.0		2112	-4.9	1.0	6	dbSNP_134	230	0,8600	1.2+/-3.3	0,0,4300	no	coding-synonymous	PHIP	NM_017934.5		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		704/1822	79707220	8,12998	2203	4300	6503	79763939	SO:0001819	synonymous_variant	55023	exon19			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2112C>T	6.37:g.79707220G>A			79763939	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	CCDS4987.1																																																																																				0.498	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
TPBG	7162	broad.mit.edu	37	6	83075281	83075281	+	Silent	SNP	G	G	A	rs142377093	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:83075281G>A	ENST00000369750.3	+	2	1220	c.603G>A	c.(601-603)gcG>gcA	p.A201A	TPBG_ENST00000535040.1_Silent_p.A201A|TPBG_ENST00000543496.1_Silent_p.A201A			Q13641	TPBG_HUMAN	trophoblast glycoprotein	201					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)		p.A201A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		TGGTGGTGGCGGCCCTGCTGG	0.672													G|||	3	0.000599042	0.0023	0.0	5008	,	,		14145	0.0		0.0	False		,,,				2504	0.0				p.A201A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G603A	6						.	G	,	1,4405	2.1+/-5.4	0,1,2202	58.0	66.0	63.0		603,603	-5.3	0.0	6	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TPBG	NM_001166392.1,NM_006670.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	201/421,201/421	83075281	1,13005	2203	4300	6503	83132000	SO:0001819	synonymous_variant	7162	exon2			AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.603G>A	6.37:g.83075281G>A			83132000	NM_001166392	A8K555	Silent	SNP	ENST00000369750.3	37	CCDS4995.1																																																																																				0.672	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1		
C6orf165	154313	broad.mit.edu	37	6	88170751	88170751	+	Silent	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:88170751T>C	ENST00000507897.1	+	12	1589	c.1506T>C	c.(1504-1506)gcT>gcC	p.A502A	C6ORF165_ENST00000369562.4_Silent_p.A502A|C6orf165_ENST00000506888.1_3'UTR			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	502								p.A502A(1)		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)		TGAGAGATGCTGACAAACATT	0.308																																					p.A502A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1506C	6						.						62.0	57.0	58.0					6																	88170751		2203	4298	6501	88227470	SO:0001819	synonymous_variant	154313	exon12			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.1506T>C	6.37:g.88170751T>C			88227470	NM_001031743	A8K969|E1P507|Q8N9U4	Silent	SNP	ENST00000507897.1	37	CCDS34498.1																																																																																				0.308	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823	
BACH2	60468	broad.mit.edu	37	6	90718449	90718449	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:90718449C>T	ENST00000257749.4	-	6	822	c.115G>A	c.(115-117)Gtg>Atg	p.V39M	BACH2_ENST00000537989.1_Missense_Mutation_p.V39M|BACH2_ENST00000343122.3_Missense_Mutation_p.V39M	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	39	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.V39M(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ATCAAAGTCACGTCACAGAGA	0.537																																					p.V39M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G115A	6						.						161.0	152.0	155.0					6																	90718449		2203	4300	6503	90775170	SO:0001583	missense	60468	exon6			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.115G>A	6.37:g.90718449C>T	ENSP00000257749:p.Val39Met		90775170	NM_021813	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216033	0.79352	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122;ENST00000406998;ENST00000453877	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.33	5.33	0.75918	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.062988	0.64402	D	0.000006	D	0.87386	0.6164	M	0.88241	2.94	0.46774	D	0.999198	D	0.89917	1.0	D	0.77557	0.99	D	0.89463	0.3738	10	0.87932	D	0	-0.0182	19.0228	0.92921	0.0:1.0:0.0:0.0	.	39	Q9BYV9	BACH2_HUMAN	M	39	ENSP00000257749:V39M;ENSP00000437473:V39M;ENSP00000345642:V39M;ENSP00000384145:V39M;ENSP00000397668:V39M	ENSP00000257749:V39M	V	-	1	0	BACH2	90775170	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.643000	0.67895	2.507000	0.84556	0.591000	0.81541	GTG		0.537	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813	
FUT9	10690	broad.mit.edu	37	6	96651507	96651507	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:96651507G>A	ENST00000302103.5	+	3	802	c.476G>A	c.(475-477)cGc>cAc	p.R159H		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	159					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.R159H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTGACTTACCGCCGTGATTCA	0.458																																					p.R159H	Melanoma(98;1369 1476 6592 22940 26587)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G476A	6						.						69.0	65.0	66.0					6																	96651507		2203	4300	6503	96758228	SO:0001583	missense	10690	exon3			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.476G>A	6.37:g.96651507G>A	ENSP00000302599:p.Arg159His		96758228	NM_006581	Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152686	0.57259	.	.	ENSG00000172461	ENST00000302103	T	0.39997	1.05	5.3	5.3	0.74995	.	0.050188	0.85682	D	0.000000	T	0.57257	0.2041	M	0.72624	2.21	0.54753	D	0.999988	D	0.67145	0.996	D	0.66602	0.945	T	0.59757	-0.7394	10	0.62326	D	0.03	-11.0367	18.3049	0.90177	0.0:0.0:1.0:0.0	.	159	Q9Y231	FUT9_HUMAN	H	159	ENSP00000302599:R159H	ENSP00000302599:R159H	R	+	2	0	FUT9	96758228	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	7.499000	0.81566	2.643000	0.89663	0.655000	0.94253	CGC		0.458	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581	
PACRG	135138	broad.mit.edu	37	6	163149278	163149279	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:163149278_163149279delAA	ENST00000337019.3	+	2	235_236	c.11_12delAA	c.(10-12)gaafs	p.E4fs	PARK2_ENST00000366896.1_5'Flank|PARK2_ENST00000366892.1_5'Flank|PARK2_ENST00000366897.1_5'Flank|PARK2_ENST00000338468.3_5'Flank|PARK2_ENST00000366894.1_5'Flank|PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366888.2_Frame_Shift_Del_p.E4fs|PARK2_ENST00000366898.1_5'Flank|PACRG_ENST00000366889.2_Frame_Shift_Del_p.E4fs	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	4					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)		p.K5fs*35(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		ATGGTGGCAGAAAAAGAGACCC	0.475																																					p.4_4del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.11_12del	6						.																																			163069269	SO:0001589	frameshift_variant	135138	exon2			AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.11_12delAA	6.37:g.163149280_163149281delAA	ENSP00000337946:p.Glu4fs		163069268	NM_001080378	E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Frame_Shift_Del	DEL	ENST00000337019.3	37	CCDS5284.1																																																																																				0.475	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410	
DLL1	28514	broad.mit.edu	37	6	170592829	170592829	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:170592829delC	ENST00000366756.3	-	9	1871	c.1538delG	c.(1537-1539)ggtfs	p.G513fs		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	513	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.G513fs*24(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GCAGTTGGGACCCCCGTAGCC	0.706																																					p.G513fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1538delG	6						.						14.0	16.0	15.0					6																	170592829		2165	4257	6422	170434754	SO:0001589	frameshift_variant	28514	exon9			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1538delG	6.37:g.170592829delC	ENSP00000355718:p.Gly513fs		170434754	NM_005618	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Frame_Shift_Del	DEL	ENST00000366756.3	37	CCDS5313.1																																																																																				0.706	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1		
FAM120B	84498	broad.mit.edu	37	6	170667354	170667354	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr6:170667354C>T	ENST00000476287.1	+	6	2339	c.2231C>T	c.(2230-2232)gCg>gTg	p.A744V	FAM120B_ENST00000537664.1_Missense_Mutation_p.A767V|FAM120B_ENST00000540480.1_Missense_Mutation_p.A756V|FAM120B_ENST00000252510.9_Missense_Mutation_p.A76V	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	744					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A744V(2)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GCGTTTATTGCGCAGGCCTTG	0.478																																					p.A744V												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C2231T	6						.						103.0	78.0	87.0					6																	170667354		2203	4300	6503	170509279	SO:0001583	missense	84498	exon6			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.2231C>T	6.37:g.170667354C>T	ENSP00000417970:p.Ala744Val		170509279	NM_032448	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221779	0.58560	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287;ENST00000252510	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.5	4.5	0.54988	.	0.233076	0.43110	D	0.000608	T	0.57607	0.2065	L	0.61387	1.9	0.41855	D	0.990194	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.60850	-0.7181	10	0.54805	T	0.06	-8.8033	14.4596	0.67440	0.0:1.0:0.0:0.0	.	744;744	Q96EK7;F2Z2E1	F120B_HUMAN;.	V	756;767;744;76	ENSP00000444125:A756V;ENSP00000440125:A767V;ENSP00000417970:A744V;ENSP00000252510:A76V	ENSP00000252510:A76V	A	+	2	0	FAM120B	170509279	0.994000	0.37717	0.090000	0.20809	0.230000	0.25150	3.953000	0.56699	2.216000	0.71823	0.655000	0.94253	GCG		0.478	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448	
TUSC5	286753	broad.mit.edu	37	17	1198899	1198899	+	Missense_Mutation	SNP	G	G	A	rs372589098		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:1198899G>A	ENST00000333813.3	+	2	841	c.502G>A	c.(502-504)Gtg>Atg	p.V168M		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	168					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)		p.V168M(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CATGGTGGCCGTGACCGTCAA	0.622																																					p.V168M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G502A	17						.						88.0	98.0	95.0					17																	1198899		2148	4242	6390	1145649	SO:0001583	missense	286753	exon2			AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.502G>A	17.37:g.1198899G>A	ENSP00000329548:p.Val168Met		1145649	NM_172367	A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	37	CCDS42225.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732983	0.30684	.	.	ENSG00000184811	ENST00000333813	T	0.74526	-0.85	5.34	0.82	0.18793	.	0.698644	0.12270	U	0.483931	T	0.62478	0.2431	M	0.68317	2.08	0.09310	N	1	P	0.40398	0.716	B	0.28638	0.092	T	0.55909	-0.8066	10	0.59425	D	0.04	-7.2288	4.8394	0.13483	0.1622:0.0:0.5418:0.296	.	168	Q8IXB3	TUSC5_HUMAN	M	168	ENSP00000329548:V168M	ENSP00000329548:V168M	V	+	1	0	TUSC5	1145649	0.001000	0.12720	0.054000	0.19295	0.273000	0.26683	0.242000	0.18087	0.246000	0.21394	-0.243000	0.11985	GTG		0.622	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367	
YWHAE	7531	broad.mit.edu	37	17	1264466	1264466	+	Silent	SNP	C	C	T	rs146808095	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:1264466C>T	ENST00000264335.8	-	4	765	c.498G>A	c.(496-498)acG>acA	p.T166T	YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Silent_p.T144T|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	166					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)	p.T166T(2)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GAATAGGATGCGTTGGTGGAA	0.463			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																														p.T166T			Dom	yes		17	17p13.3	7531	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	M	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G498A	17						.	C		3,4403	6.2+/-15.9	0,3,2200	133.0	125.0	127.0		498	-1.5	1.0	17	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	YWHAE	NM_006761.4		0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308		166/256	1264466	4,13002	2203	4300	6503	1211216	SO:0001819	synonymous_variant	7531	exon4			U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.498G>A	17.37:g.1264466C>T			1211216	NM_006761	B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Silent	SNP	ENST00000264335.8	37	CCDS11001.1																																																																																				0.463	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761	
RPH3AL	9501	broad.mit.edu	37	17	169336	169336	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:169336G>A	ENST00000331302.7	-	5	533	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	RPH3AL_ENST00000576001.1_5'Flank|RPH3AL_ENST00000536489.2_Silent_p.L76L|RPH3AL_ENST00000323434.8_Silent_p.L76L|RP11-1260E13.1_ENST00000570501.1_RNA|RP11-1260E13.1_ENST00000572998.1_RNA	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	76	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)	p.L76L(1)		NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CGCTCCACCAGCCGCCTGCAG	0.642																																					p.L76L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C226T	17						.						75.0	61.0	66.0					17																	169336		2200	4296	6496	169336	SO:0001819	synonymous_variant	9501	exon4				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.226C>T	17.37:g.169336G>A			169336	NM_001190413	D3DTG7|Q9BSB3	Silent	SNP	ENST00000331302.7	37	CCDS10994.1																																																																																				0.642	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987	
ARHGAP44	9912	broad.mit.edu	37	17	12887969	12887969	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:12887969G>A	ENST00000379672.5	+	20	2361	c.2061G>A	c.(2059-2061)ccG>ccA	p.P687P	ARHGAP44_ENST00000262444.9_Silent_p.P687P|ARHGAP44_ENST00000340825.3_Silent_p.P681P	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	687					exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)	p.P687P(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CCAGCACCCCGTCACCCTATG	0.667																																					p.P687P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2061A	17						.						22.0	26.0	24.0					17																	12887969		1891	4104	5995	12828694	SO:0001819	synonymous_variant	9912	exon20				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.2061G>A	17.37:g.12887969G>A			12828694	NM_014859	A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Silent	SNP	ENST00000379672.5	37	CCDS45616.1																																																																																				0.667	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859	
COPS3	8533	broad.mit.edu	37	17	17165397	17165397	+	Silent	SNP	C	C	T	rs374574802		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:17165397C>T	ENST00000268717.5	-	7	751	c.645G>A	c.(643-645)gcG>gcA	p.A215A	COPS3_ENST00000439936.2_Silent_p.A195A|COPS3_ENST00000539941.2_Silent_p.A195A	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	215	PCI.				cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.A215A(1)		NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TATGACTGACCGCCATGGCAG	0.358																																					p.A215A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G645A	17						.						59.0	58.0	59.0					17																	17165397		2203	4299	6502	17106122	SO:0001819	synonymous_variant	8533	exon7			AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3"", ""COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"""			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.645G>A	17.37:g.17165397C>T			17106122	NM_003653	B2R683|B4DY81|O43191|Q7LDR6	Silent	SNP	ENST00000268717.5	37	CCDS11183.1																																																																																				0.358	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2		
MYO15A	51168	broad.mit.edu	37	17	18082115	18082115	+	Silent	SNP	C	C	T	rs375839184		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:18082115C>T	ENST00000205890.5	+	66	10862	c.10524C>T	c.(10522-10524)caC>caT	p.H3508H	MYO15A_ENST00000418233.3_Missense_Mutation_p.R790C|RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000451725.2_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3508	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.H3508H(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCCGTGCACGTGGAGAACC	0.617																																					p.H3508H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C10524T	17						.	C		0,4304		0,0,2152	129.0	144.0	139.0		10524	-11.0	0.3	17		139	2,8532		0,2,4265	no	coding-synonymous	MYO15A	NM_016239.3		0,2,6417	TT,TC,CC		0.0234,0.0,0.0156		3508/3531	18082115	2,12836	2152	4267	6419	18022840	SO:0001819	synonymous_variant	51168	exon65			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10524C>T	17.37:g.18082115C>T			18022840	NM_016239	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1																																																																																				0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
PRPSAP2	5636	broad.mit.edu	37	17	18770596	18770596	+	Splice_Site	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:18770596C>T	ENST00000268835.2	+	4	404	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	PRPSAP2_ENST00000542013.1_Splice_Site_p.R41W|PRPSAP2_ENST00000536323.1_Intron|PRPSAP2_ENST00000419071.2_Intron	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	41					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)	p.R41W(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CTTCTCTAGGCGGCTAGGGGT	0.418																																					p.R41W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C121T	17						.						108.0	107.0	107.0					17																	18770596		2203	4300	6503	18711321	SO:0001630	splice_region_variant	5636	exon4			AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.120-1C>T	17.37:g.18770596C>T			18711321	NM_002767	B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Missense_Mutation	SNP	ENST00000268835.2	37	CCDS11200.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153985	0.78114	.	.	ENSG00000141127	ENST00000441887;ENST00000395656;ENST00000414602;ENST00000432893;ENST00000431320;ENST00000455992;ENST00000412418;ENST00000419284;ENST00000268835;ENST00000422237;ENST00000542013	D;D;D;D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	5.1	4.06	0.47325	.	0.126993	0.53938	D	0.000041	D	0.96153	0.8746	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.96428	0.9317	10	0.72032	D	0.01	-2.0379	14.2934	0.66295	0.1494:0.8506:0.0:0.0	.	41;41	B7ZKZ1;O60256	.;KPRB_HUMAN	W	41	ENSP00000395127:R41W;ENSP00000416964:R41W;ENSP00000399625:R41W;ENSP00000416021:R41W;ENSP00000402612:R41W;ENSP00000415446:R41W;ENSP00000268835:R41W;ENSP00000401144:R41W;ENSP00000439129:R41W	ENSP00000268835:R41W	R	+	1	2	PRPSAP2	18711321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.164000	0.50770	2.524000	0.85096	0.655000	0.94253	CGG		0.418	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767	Missense_Mutation
MNT	4335	broad.mit.edu	37	17	2290266	2290266	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:2290266G>A	ENST00000174618.4	-	6	2083	c.1678C>T	c.(1678-1680)Cag>Tag	p.Q560*	MNT_ENST00000575374.1_5'Flank|RP1-59D14.1_ENST00000571775.1_RNA	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	560					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q560*(1)		endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		AGCACGGTCTGGCCCACCAGC	0.677																																					p.Q560X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1678T	17						.						28.0	25.0	26.0					17																	2290266		2190	4291	6481	2237016	SO:0001587	stop_gained	4335	exon6			Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.1678C>T	17.37:g.2290266G>A	ENSP00000174618:p.Gln560*		2237016	NM_020310	A8K6D1|D3DTI7|Q1ED38	Nonsense_Mutation	SNP	ENST00000174618.4	37	CCDS11018.1	.	.	.	.	.	.	.	.	.	.	G	41	9.086166	0.99061	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	.	.	.	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-13.3413	17.0679	0.86564	0.0:0.0:1.0:0.0	.	.	.	.	X	560	.	ENSP00000174618:Q560X	Q	-	1	0	MNT	2237016	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.636000	0.98440	2.274000	0.75844	0.591000	0.81541	CAG		0.677	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310	
METTL16	79066	broad.mit.edu	37	17	2324125	2324125	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:2324125A>G	ENST00000263092.6	-	9	1089	c.962T>C	c.(961-963)aTg>aCg	p.M321T	METTL16_ENST00000571669.2_5'UTR|METTL16_ENST00000538844.1_Missense_Mutation_p.M103T	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	321							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.M321T(2)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TAATTCCTTCATCACGGACGC	0.453																																					p.M321T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T962C	17						.						249.0	232.0	238.0					17																	2324125		1926	4152	6078	2270875	SO:0001583	missense	79066	exon9			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.962T>C	17.37:g.2324125A>G	ENSP00000263092:p.Met321Thr		2270875	NM_024086	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.456423	0.26161	.	.	ENSG00000127804	ENST00000263092;ENST00000537138;ENST00000538844	T;T	0.43688	0.97;0.94	6.06	6.06	0.98353	.	0.326036	0.40640	N	0.001043	T	0.42607	0.1210	L	0.57536	1.79	0.43275	D	0.995232	B	0.21753	0.06	B	0.18263	0.021	T	0.31530	-0.9940	10	0.66056	D	0.02	-6.5643	14.5675	0.68188	1.0:0.0:0.0:0.0	.	321	Q86W50	MET16_HUMAN	T	321;1;103	ENSP00000263092:M321T;ENSP00000443633:M103T	ENSP00000263092:M321T	M	-	2	0	METTL16	2270875	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	6.667000	0.74451	2.315000	0.78130	0.533000	0.62120	ATG		0.453	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086	
METTL16	79066	broad.mit.edu	37	17	2381160	2381160	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:2381160C>T	ENST00000263092.6	-	3	275	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	METTL16_ENST00000571669.2_5'UTR|METTL16_ENST00000538844.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	50							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.E50K(2)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CTGACTGCTTCGGGGTCTTTA	0.408																																					p.E50K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G148A	17						.						94.0	90.0	91.0					17																	2381160		1839	4081	5920	2327910	SO:0001583	missense	79066	exon3			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.148G>A	17.37:g.2381160C>T	ENSP00000263092:p.Glu50Lys		2327910	NM_024086	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724193	0.68959	.	.	ENSG00000127804	ENST00000263092;ENST00000399834	T	0.17370	2.28	6.07	6.07	0.98685	.	0.151027	0.64402	D	0.000007	T	0.11196	0.0273	N	0.25245	0.725	0.80722	D	1	B;B	0.32829	0.076;0.386	B;B	0.29598	0.021;0.104	T	0.23332	-1.0191	10	0.17832	T	0.49	-14.3847	13.0052	0.58701	0.1611:0.8389:0.0:0.0	.	50;50	Q86W50-2;Q86W50	.;MET16_HUMAN	K	50	ENSP00000263092:E50K	ENSP00000263092:E50K	E	-	1	0	METTL16	2327910	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.780000	0.62382	2.890000	0.99128	0.650000	0.86243	GAA		0.408	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086	
EPN2	22905	broad.mit.edu	37	17	19232062	19232062	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:19232062C>T	ENST00000314728.5	+	8	1670	c.1186C>T	c.(1186-1188)Ccc>Tcc	p.P396S	EPN2_ENST00000347697.2_Missense_Mutation_p.P339S|EPN2_ENST00000395626.1_Missense_Mutation_p.P396S|EPN2_ENST00000575595.1_Missense_Mutation_p.P104S|EPN2_ENST00000395620.2_Missense_Mutation_p.P339S|EPN2_ENST00000571254.1_Missense_Mutation_p.P332S|EPN2_ENST00000395618.3_Missense_Mutation_p.P111S	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	396	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.P396S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					ATGGGGGGTGCCCACTGGAGC	0.617																																					p.P396S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1186T	17						.						58.0	53.0	55.0					17																	19232062		2203	4300	6503	19172655	SO:0001583	missense	22905	exon8			AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1186C>T	17.37:g.19232062C>T	ENSP00000320543:p.Pro396Ser		19172655	NM_014964	A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	C	6.672	0.492516	0.12702	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T;T	0.36699	2.39;2.09;2.25;1.41;2.39;1.24	5.14	4.14	0.48551	.	4.198420	0.00589	N	0.000356	T	0.42426	0.1202	M	0.68317	2.08	0.23848	N	0.996679	B;B;B;B;B;B;B	0.26672	0.021;0.156;0.063;0.063;0.038;0.021;0.038	B;B;B;B;B;B;B	0.29077	0.007;0.043;0.098;0.098;0.01;0.007;0.01	T	0.41627	-0.9498	10	0.15066	T	0.55	-8.5582	10.7528	0.46219	0.1481:0.7092:0.1427:0.0	.	339;332;104;111;396;339;396	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC1;E9PBC2;O95208	.;.;.;.;.;.;EPN2_HUMAN	S	339;111;396;339;339;396	ENSP00000261495:P339S;ENSP00000378980:P111S;ENSP00000320543:P396S;ENSP00000378990:P339S;ENSP00000378982:P339S;ENSP00000378988:P396S	ENSP00000320543:P396S	P	+	1	0	EPN2	19172655	0.295000	0.24389	0.022000	0.16811	0.032000	0.12392	1.666000	0.37460	1.229000	0.43630	0.561000	0.74099	CCC		0.617	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964	
VTN	7448	broad.mit.edu	37	17	26694894	26694894	+	Missense_Mutation	SNP	C	C	T	rs150566083		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:26694894C>T	ENST00000226218.4	-	7	1784	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	VTN_ENST00000438614.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.2_ENST00000555059.2_Missense_Mutation_p.R47H|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_5'UTR|SARM1_ENST00000379061.4_Intron|VTN_ENST00000431468.1_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	389	Heparin-binding.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R389H(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GTTCTGGTTGCGGCCACGGCT	0.592																																					p.R389H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1166A	17						.	C	HIS/ARG	0,4406		0,0,2203	50.0	46.0	48.0		1166	2.7	0.0	17	dbSNP_134	48	2,8598	2.2+/-6.3	0,2,4298	yes	missense	VTN	NM_000638.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	389/479	26694894	2,13004	2203	4300	6503	23719021	SO:0001583	missense	7448	exon7			BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.1166G>A	17.37:g.26694894C>T	ENSP00000226218:p.Arg389His		23719021	NM_000638	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790566	0.31685	0.0	2.33E-4	ENSG00000255604	ENST00000226218	T	0.05081	3.5	4.65	2.68	0.31781	Hemopexin/matrixin (1);	0.318929	0.30930	N	0.008597	T	0.04634	0.0126	N	0.20986	0.625	0.20403	N	0.999906	B	0.13145	0.007	B	0.08055	0.003	T	0.34750	-0.9816	10	0.62326	D	0.03	-6.7317	7.8715	0.29569	0.0:0.743:0.0:0.257	.	389	P04004	VTNC_HUMAN	H	389	ENSP00000226218:R389H	ENSP00000226218:R389H	R	-	2	0	AC002094.1	23719021	0.001000	0.12720	0.015000	0.15790	0.005000	0.04900	0.216000	0.17585	0.595000	0.29777	-0.244000	0.11960	CGC		0.592	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638	
SUPT6H	6830	broad.mit.edu	37	17	27030847	27030847	+	IGR	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:27030847G>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000301039.2_Missense_Mutation_p.P247H|PROCA1_ENST00000439862.3_Missense_Mutation_p.P249H|PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000581289.1_3'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P247H(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGGCGGGGAAGGCTCCAATTT	0.522																																					p.P247H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C740A	17						.						106.0	111.0	109.0					17																	27030847		2203	4300	6503	24054974	SO:0001628	intergenic_variant	147011	exon4			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27030847G>T			24054974	NM_152465	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963329	0.34659	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.04758	3.56;3.56	5.27	3.21	0.36854	.	1.031230	0.07685	N	0.937708	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	P;P;P	0.49447	0.875;0.924;0.924	P;P;P	0.47941	0.459;0.562;0.562	T	0.44636	-0.9315	10	0.49607	T	0.09	-0.756	6.685	0.23140	0.0957:0.1826:0.7217:0.0	.	275;249;247	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	H	247;249;275	ENSP00000301039:P247H;ENSP00000411400:P249H	ENSP00000301039:P247H	P	-	2	0	PROCA1	24054974	0.146000	0.22672	0.983000	0.44433	0.124000	0.20399	1.773000	0.38563	1.294000	0.44707	0.655000	0.94253	CCT		0.522	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	
NEK8	284086	broad.mit.edu	37	17	27061963	27061963	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:27061963G>A	ENST00000268766.6	+	3	461	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.V143I(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CCGCATGGTCGTCAAGATCGG	0.557																																					p.V143I	NSCLC(6;19 293 14866 25253 49845)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G427A	17						.						222.0	180.0	194.0					17																	27061963		2203	4300	6503	24086090	SO:0001583	missense	284086	exon3			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.427G>A	17.37:g.27061963G>A	ENSP00000268766:p.Val143Ile		24086090	NM_178170	A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743417	0.69418	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.26373	1.74;1.74	5.73	5.73	0.89815	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	0.28234	0.0697	L	0.31926	0.97	0.80722	D	1	P	0.51449	0.945	P	0.46940	0.532	T	0.00653	-1.1625	10	0.29301	T	0.29	.	18.8738	0.92327	0.0:0.0:1.0:0.0	.	143	Q86SG6	NEK8_HUMAN	I	143	ENSP00000465859:V143I;ENSP00000268766:V143I	ENSP00000268766:V143I	V	+	1	0	NEK8	24086090	1.000000	0.71417	0.913000	0.36048	0.567000	0.35839	9.449000	0.97603	2.709000	0.92574	0.491000	0.48974	GTC		0.557	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2		
C17orf97	400566	broad.mit.edu	37	17	263146	263146	+	Missense_Mutation	SNP	G	G	A	rs373476599		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:263146G>A	ENST00000360127.6	+	2	528	c.512G>A	c.(511-513)cGt>cAt	p.R171H	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	171								p.R171H(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GAAAGTCTGCGTTGGGATGGA	0.522																																					p.R171H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G512A	17						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	100.0	105.0	104.0		512	5.0	1.0	17		104	0,8600		0,0,4300	no	missense	C17orf97	NM_001013672.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	171/424	263146	1,13005	2203	4300	6503	263462	SO:0001583	missense	400566	exon2			AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.512G>A	17.37:g.263146G>A	ENSP00000353245:p.Arg171His		263462	NM_001013672	A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664459	0.67700	2.27E-4	0.0	ENSG00000187624	ENST00000360127;ENST00000491373	T;T	0.69175	0.21;-0.38	5.02	5.02	0.67125	.	0.000000	0.42821	D	0.000654	T	0.73210	0.3558	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73852	-0.3852	10	0.52906	T	0.07	-23.1528	14.567	0.68185	0.0:0.0:1.0:0.0	.	171	Q6ZQX7-4	.	H	171;165	ENSP00000353245:R171H;ENSP00000419482:R165H	ENSP00000353245:R171H	R	+	2	0	C17orf97	263462	1.000000	0.71417	0.989000	0.46669	0.232000	0.25224	6.355000	0.73041	2.715000	0.92844	0.655000	0.94253	CGT		0.522	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672	
FAM222B	55731	broad.mit.edu	37	17	27085474	27085474	+	Silent	SNP	G	G	A	rs201468014		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:27085474G>A	ENST00000341217.5	-	3	1718	c.1503C>T	c.(1501-1503)ggC>ggT	p.G501G	FAM222B_ENST00000581407.1_Silent_p.G501G|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000452648.3_Silent_p.G501G	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	501								p.G501G(1)									CCACTGGACCGCCCCCGGTCC	0.632																																					p.A501V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1502T	17						.						43.0	47.0	46.0					17																	27085474		1970	4134	6104	24109601	SO:0001819	synonymous_variant	55731	exon3			AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.1503C>T	17.37:g.27085474G>A			24109601	NM_001077498	Q9H6F3|Q9NVJ4|Q9NXN6	Silent	SNP	ENST00000341217.5	37	CCDS45637.1																																																																																				0.632	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182	
LRRC37B	114659	broad.mit.edu	37	17	30348649	30348649	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:30348649C>T	ENST00000341671.7	+	1	489	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	LRRC37B_ENST00000584368.1_Missense_Mutation_p.R174W|LRRC37B_ENST00000327564.7_Missense_Mutation_p.R189W|LRRC37B_ENST00000394713.3_Missense_Mutation_p.R162W|LRRC37B_ENST00000543378.2_Missense_Mutation_p.R80W	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	162						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R162W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGATCTAGATCGGGCTGCAGG	0.488																																					p.R162W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C484T	17						.						54.0	53.0	54.0					17																	30348649		2203	4300	6503	27372762	SO:0001583	missense	114659	exon1			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.484C>T	17.37:g.30348649C>T	ENSP00000340519:p.Arg162Trp		27372762	NM_052888	Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	13.01	2.110729	0.37242	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.66995	-0.18;-0.24;0.87;-0.23	2.05	1.01	0.19927	.	.	.	.	.	T	0.42381	0.1200	N	0.22421	0.69	0.09310	N	1	D;D	0.63880	0.993;0.993	B;B	0.35278	0.199;0.199	T	0.27297	-1.0078	9	0.37606	T	0.19	.	6.3829	0.21544	0.0:0.6881:0.3119:0.0	.	162;162	Q17RC9;Q96QE4	.;LR37B_HUMAN	W	80;189;162;162	ENSP00000443345:R80W;ENSP00000332536:R189W;ENSP00000378202:R162W;ENSP00000340519:R162W	ENSP00000332536:R189W	R	+	1	2	LRRC37B	27372762	0.004000	0.15560	0.010000	0.14722	0.051000	0.14879	0.010000	0.13242	0.388000	0.25054	0.299000	0.19835	CGG		0.488	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888	
RFFL	117584	broad.mit.edu	37	17	33353571	33353571	+	Start_Codon_SNP	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:33353571A>G	ENST00000315249.7	-	2	224	c.2T>C	c.(1-3)aTg>aCg	p.M1T	RFFL_ENST00000413582.2_Start_Codon_SNP_p.M1T|RFFL_ENST00000394597.2_Start_Codon_SNP_p.M1T|RFFL_ENST00000378516.2_Start_Codon_SNP_p.M1T|RFFL_ENST00000447669.2_Start_Codon_SNP_p.M1T|RFFL_ENST00000415395.2_Start_Codon_SNP_p.M1T|RFFL_ENST00000584655.1_Start_Codon_SNP_p.M1T|RFFL_ENST00000268850.7_Start_Codon_SNP_p.M1T|RAD51L3-RFFL_ENST00000593039.1_Intron					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase									p.M1T(1)		kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGTTGCCCACATGATAAAATC	0.552																																					p.M1T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2C	17						.						39.0	35.0	36.0					17																	33353571		2203	4300	6503	30377684	SO:0001582	initiator_codon_variant	117584	exon2			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.2T>C	17.37:g.33353571A>G	ENSP00000326170:p.Met1Thr		30377684	NM_001017368		Missense_Mutation	SNP	ENST00000315249.7	37	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.448350	0.63178	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395;ENST00000414419;ENST00000447669	T;T;T;T;T;T;T	0.54675	0.58;0.58;0.58;0.56;0.58;0.58;0.58	5.32	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	.	.	.	0.80722	D	1	D;P;D;D	0.76494	0.984;0.918;0.999;0.984	D;P;D;D	0.77004	0.946;0.884;0.989;0.946	T	0.71351	-0.4619	9	0.87932	D	0	-18.6077	9.5472	0.39288	0.8532:0.0:0.1468:0.0	.	1;1;1;1	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	T	1	ENSP00000326170:M1T;ENSP00000378096:M1T;ENSP00000367777:M1T;ENSP00000268850:M1T;ENSP00000408513:M1T;ENSP00000412322:M1T;ENSP00000389832:M1T	ENSP00000268850:M1T	M	-	2	0	RFFL	30377684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.870000	0.87175	1.033000	0.39918	0.528000	0.53228	ATG		0.552	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178	Missense_Mutation
NLE1	54475	broad.mit.edu	37	17	33460366	33460366	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:33460366C>T	ENST00000442241.4	-	11	1405	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	NLE1_ENST00000360831.5_Missense_Mutation_p.A414T|NLE1_ENST00000586869.1_Missense_Mutation_p.A164T	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	456					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.A456T(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				ACCTCATCCGCGTGGCCGGGC	0.647																																					p.A164T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G490A	17						.						81.0	78.0	79.0					17																	33460366		2203	4300	6503	30484479	SO:0001583	missense	54475	exon10				CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.1366G>A	17.37:g.33460366C>T	ENSP00000413572:p.Ala456Thr		30484479	NM_001014445	O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	CCDS11291.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522641	0.64747	.	.	ENSG00000073536	ENST00000442241;ENST00000360831;ENST00000537697	T	0.54279	0.58	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	N	0.00811	-1.165	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.941;0.999	T	0.64618	-0.6365	10	0.36615	T	0.2	-23.3494	16.7269	0.85424	0.0:1.0:0.0:0.0	.	432;456	B4E074;Q9NVX2	.;NLE1_HUMAN	T	456;164;432	ENSP00000413572:A456T	ENSP00000354075:A164T	A	-	1	0	NLE1	30484479	1.000000	0.71417	0.035000	0.18076	0.177000	0.22998	7.087000	0.76893	2.802000	0.96397	0.563000	0.77884	GCG		0.647	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096	
ACACA	31	broad.mit.edu	37	17	35609842	35609842	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:35609842C>T	ENST00000394406.2	-	15	2026	c.1836G>A	c.(1834-1836)tgG>tgA	p.W612*	ACACA_ENST00000335166.5_Nonsense_Mutation_p.W534*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.W554*|ACACA_ENST00000353139.5_Nonsense_Mutation_p.W649*	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	612	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.W554*(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GTCTGTCCAGCCAGCCAGTAT	0.423																																					p.W649X	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1947A	17						.						170.0	172.0	171.0					17																	35609842		2203	4300	6503	32683955	SO:0001587	stop_gained	31	exon15			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1836G>A	17.37:g.35609842C>T	ENSP00000377928:p.Trp612*		32683955	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Nonsense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	44	10.686466	0.99450	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3109	19.5674	0.95401	0.0:1.0:0.0:0.0	.	.	.	.	X	649;554;612;636;534	.	ENSP00000335323:W534X	W	-	3	0	ACACA	32683955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	TGG		0.423	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
SRCIN1	80725	broad.mit.edu	37	17	36708277	36708277	+	Missense_Mutation	SNP	C	C	T	rs7222929	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:36708277C>T	ENST00000264659.7	-	14	2796	c.2572G>A	c.(2572-2574)Gtg>Atg	p.V858M	SRCIN1_ENST00000578925.1_Missense_Mutation_p.V892M|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	730	Pro-rich.				exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.V858M(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCGAAGTCCACGCTCTTGTTG	0.622													C|||	237	0.0473243	0.1679	0.0144	5008	,	,		17220	0.0		0.0	False		,,,				2504	0.0051				p.V858M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2572A	17						.	C	MET/VAL	600,3358		49,502,1428	40.0	47.0	45.0		2572	-1.4	0.4	17	dbSNP_116	45	10,8258		0,10,4124	yes	missense	SRCIN1	NM_025248.2	21	49,512,5552	TT,TC,CC		0.1209,15.1592,4.9894	benign	858/1184	36708277	610,11616	1979	4134	6113	33961803	SO:0001583	missense	80725	exon14				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2572G>A	17.37:g.36708277C>T	ENSP00000264659:p.Val858Met		33961803	NM_025248	Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	CCDS45660.1	90	0.04120879120879121	84	0.17073170731707318	6	0.016574585635359115	0	0.0	0	0.0	C	6.675	0.493112	0.12702	0.151592	0.001209	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.43688	0.94	4.69	-1.42	0.08913	.	0.364146	0.27420	N	0.019451	T	0.00039	0.0001	L	0.29908	0.895	0.51233	P	8.900000000000574E-5	P;B;B;B	0.36110	0.537;0.216;0.216;0.015	B;B;B;B	0.13407	0.009;0.004;0.004;0.002	T	0.14671	-1.0464	9	0.44086	T	0.13	-10.5966	0.5426	0.00648	0.3992:0.1273:0.2332:0.2403	rs7222929;rs52804512;rs7222929	164;730;730;858	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	M	858;639;712	ENSP00000264659:V858M	ENSP00000264659:V858M	V	-	1	0	SRCIN1	33961803	0.447000	0.25673	0.424000	0.26647	0.293000	0.27360	-0.300000	0.08243	-0.160000	0.11002	-1.334000	0.01262	GTG		0.622	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248	
FBXO47	494188	broad.mit.edu	37	17	37118156	37118156	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:37118156G>A	ENST00000378079.2	-	3	525	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	109								p.A109V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CTCCAGTATAGCAGAGTCTTG	0.358																																					p.A109V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C326T	17						.						165.0	154.0	158.0					17																	37118156		2203	4300	6503	34371682	SO:0001583	missense	494188	exon3				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.326C>T	17.37:g.37118156G>A	ENSP00000367319:p.Ala109Val		34371682	NM_001008777	B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426281	0.25726	.	.	ENSG00000204952	ENST00000378079	T	0.69306	-0.39	5.59	-1.86	0.07760	.	1.082310	0.06882	N	0.802676	T	0.49406	0.1555	L	0.40543	1.245	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.28776	-1.0033	10	0.27082	T	0.32	0.2948	1.4144	0.02299	0.1587:0.3129:0.2276:0.3008	.	109	Q5MNV8	FBX47_HUMAN	V	109	ENSP00000367319:A109V	ENSP00000367319:A109V	A	-	2	0	FBXO47	34371682	0.000000	0.05858	0.001000	0.08648	0.953000	0.61014	-1.413000	0.02473	0.026000	0.15269	0.462000	0.41574	GCT		0.358	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777	
CDK12	51755	broad.mit.edu	37	17	37673767	37673767	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:37673767C>T	ENST00000447079.4	+	10	2954	c.2921C>T	c.(2920-2922)cCg>cTg	p.P974L	CDK12_ENST00000430627.2_Missense_Mutation_p.P974L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	974	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.P974L(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACCATGAAACCGAAGAAGCAA	0.463			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																											p.P974L			Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2921T	17						.						205.0	181.0	189.0					17																	37673767		2203	4300	6503	34927293	SO:0001583	missense	51755	exon10			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.2921C>T	17.37:g.37673767C>T	ENSP00000398880:p.Pro974Leu		34927293	NM_016507	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147627	0.77888	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.39406	1.08;1.08	5.04	5.04	0.67666	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	0.43416	D	0.000578	T	0.56891	0.2016	L	0.37697	1.125	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	0.58177	-0.7682	10	0.54805	T	0.06	-7.2995	18.749	0.91806	0.0:1.0:0.0:0.0	.	973;974;974	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	L	974	ENSP00000407720:P974L;ENSP00000398880:P974L	ENSP00000407720:P974L	P	+	2	0	CDK12	34927293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.754000	0.85163	2.497000	0.84241	0.563000	0.77884	CCG		0.463	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	
KRT26	353288	broad.mit.edu	37	17	38922815	38922815	+	Silent	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:38922815T>C	ENST00000335552.4	-	8	1407	c.1359A>G	c.(1357-1359)aaA>aaG	p.K453K		NM_181539.4	NP_853517.2			keratin 26									p.K453K(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TGTTGCTTATTTTAGAGGACT	0.368																																					p.K453K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1359G	17						.						169.0	166.0	167.0					17																	38922815		2203	4300	6503	36176341	SO:0001819	synonymous_variant	353288	exon8			AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.1359A>G	17.37:g.38922815T>C			36176341	NM_181539		Silent	SNP	ENST00000335552.4	37	CCDS11374.1																																																																																				0.368	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539	
KRTAP3-2	83897	broad.mit.edu	37	17	39156085	39156085	+	Silent	SNP	G	G	A	rs386797022|rs548322379	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:39156085G>A	ENST00000391587.1	-	1	53	c.21C>T	c.(19-21)cgC>cgT	p.R7R		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	7	3 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R7R(1)		endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				CACTGCAGCTGCGAGAGGCAC	0.552																																					p.R7R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C21T	17						.						65.0	75.0	72.0					17																	39156085		2203	4296	6499	36409611	SO:0001819	synonymous_variant	83897	exon1			AJ406932	CCDS32644.1	17q21.2	2013-06-25			ENSG00000212900	ENSG00000212900		"""Keratin associated proteins"""	16779	protein-coding gene	gene with protein product						11279113	Standard	NM_031959		Approved	KAP3.2	uc002hvs.3	Q9BYR7	OTTHUMG00000133581	ENST00000391587.1:c.21C>T	17.37:g.39156085G>A			36409611	NM_031959		Silent	SNP	ENST00000391587.1	37	CCDS32644.1																																																																																				0.552	KRTAP3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257685.1		
KRT38	8687	broad.mit.edu	37	17	39596806	39596806	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:39596806C>T	ENST00000246646.3	-	1	367	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	123	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R123H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CTCCAGCTGGCGCACCTTCTC	0.587																																					p.R123H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G368A	17						.						127.0	111.0	117.0					17																	39596806		2203	4300	6503	36850332	SO:0001583	missense	8687	exon1			Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.368G>A	17.37:g.39596806C>T	ENSP00000246646:p.Arg123His		36850332	NM_006771	A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429455	0.43122	.	.	ENSG00000171360	ENST00000246646	D	0.91843	-2.92	4.45	2.4	0.29515	Filament (1);	0.000000	0.49305	D	0.000141	D	0.90290	0.6963	M	0.84511	2.7	0.09310	N	1	P	0.51537	0.946	B	0.41571	0.36	D	0.84438	0.0581	10	0.66056	D	0.02	.	4.7923	0.13254	0.1725:0.6503:0.0:0.1772	.	123	O76015	KRT38_HUMAN	H	123	ENSP00000246646:R123H	ENSP00000246646:R123H	R	-	2	0	KRT38	36850332	0.000000	0.05858	0.181000	0.23098	0.989000	0.77384	0.024000	0.13555	0.479000	0.27511	0.650000	0.86243	CGC		0.587	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771	
KRT19	3880	broad.mit.edu	37	17	39681203	39681203	+	Silent	SNP	G	G	A	rs267607655		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:39681203G>A	ENST00000361566.3	-	3	612	c.552C>T	c.(550-552)aaC>aaT	p.N184N	KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	184	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.N184N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TGCGCAGGCCGTTGATGTCGG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		19601	0.001		0.0	False		,,,				2504	0.0				p.N184N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C552T	17						.	G		0,4406		0,0,2203	107.0	112.0	110.0		552	-5.3	0.9	17		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT19	NM_002276.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		184/401	39681203	1,13005	2203	4300	6503	36934729	SO:0001819	synonymous_variant	3880	exon3				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.552C>T	17.37:g.39681203G>A			36934729	NM_002276	B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Silent	SNP	ENST00000361566.3	37	CCDS11399.1																																																																																				0.577	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276	
NT5C3B	115024	broad.mit.edu	37	17	39983803	39983803	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:39983803A>G	ENST00000435506.2	-	8	712	c.643T>C	c.(643-645)Tac>Cac	p.Y215H	NT5C3B_ENST00000269534.8_Missense_Mutation_p.Y207H|NT5C3B_ENST00000521789.1_Intron			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	215					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.Y207H(1)									TGCTGGAAGTAACCAGAGTTC	0.488																																					p.Y215H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T643C	17						.						180.0	173.0	175.0					17																	39983803		2203	4300	6503	37237329	SO:0001583	missense	115024	exon8				CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic III-like"""	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.643T>C	17.37:g.39983803A>G	ENSP00000389948:p.Tyr215His		37237329	NM_052935	A8MWB9|C9JKC4|Q7L3B7	Missense_Mutation	SNP	ENST00000435506.2	37	CCDS11410.2	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100660	0.37048	.	.	ENSG00000141698	ENST00000269534;ENST00000393911;ENST00000435506;ENST00000415460	D;D;D	0.83506	-1.73;-1.73;-1.73	5.07	3.99	0.46301	HAD-like domain (2);	0.057938	0.64402	D	0.000001	T	0.80808	0.4694	M	0.71206	2.165	0.48135	D	0.999593	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.005	T	0.75451	-0.3313	10	0.35671	T	0.21	-1.4575	11.8632	0.52478	0.8534:0.1466:0.0:0.0	.	215;207	C9JKC4;Q969T7	.;5NT3L_HUMAN	H	207;249;215;185	ENSP00000269534:Y207H;ENSP00000389948:Y215H;ENSP00000397742:Y185H	ENSP00000269534:Y207H	Y	-	1	0	NT5C3L	37237329	0.678000	0.27586	0.759000	0.31340	0.833000	0.47200	1.382000	0.34374	0.940000	0.37473	0.379000	0.24179	TAC		0.488	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2	NM_052935	
ZZEF1	23140	broad.mit.edu	37	17	3917692	3917692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:3917692G>A	ENST00000381638.2	-	50	8387	c.8263C>T	c.(8263-8265)Cga>Tga	p.R2755*		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2755							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R2755*(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						AAGCTGTGTCGGTCTTGCTGG	0.478																																					p.R2755X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C8263T	17						.						142.0	128.0	133.0					17																	3917692		2203	4300	6503	3864441	SO:0001587	stop_gained	23140	exon50			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.8263C>T	17.37:g.3917692G>A	ENSP00000371051:p.Arg2755*		3864441	NM_015113	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	49	15.526175	0.99836	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.17	5.17	0.71159	.	0.233606	0.37955	N	0.001867	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.938	18.8737	0.92327	0.0:0.0:1.0:0.0	.	.	.	.	X	2755	.	ENSP00000371051:R2755X	R	-	1	2	ZZEF1	3864441	1.000000	0.71417	0.993000	0.49108	0.896000	0.52359	3.398000	0.52579	2.703000	0.92315	0.655000	0.94253	CGA		0.478	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
CNTNAP1	8506	broad.mit.edu	37	17	40843519	40843519	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:40843519C>T	ENST00000264638.4	+	15	2551	c.2334C>T	c.(2332-2334)tgC>tgT	p.C778C	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	778	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.C778C(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTCTGCGCTGCTATGGCGATC	0.562																																					p.C778C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2334T	17						.						108.0	97.0	101.0					17																	40843519		2203	4300	6503	38097045	SO:0001819	synonymous_variant	8506	exon15			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2334C>T	17.37:g.40843519C>T			38097045	NM_003632		Silent	SNP	ENST00000264638.4	37	CCDS11436.1																																																																																				0.562	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	
CD300LG	146894	broad.mit.edu	37	17	41934500	41934500	+	Silent	SNP	C	C	T	rs142790995	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:41934500C>T	ENST00000317310.4	+	6	902	c.861C>T	c.(859-861)aaC>aaT	p.N287N	CD300LG_ENST00000586233.1_Silent_p.N202N|CD300LG_ENST00000377203.4_Silent_p.N253N|CD300LG_ENST00000293396.8_Silent_p.N202N|CD300LG_ENST00000539718.1_Silent_p.N287N	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	287					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.N287N(1)		central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CACAGAGGAACGAGAAGTTCT	0.567																																					p.N253N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C759T	17						.						127.0	94.0	105.0					17																	41934500		2203	4300	6503	39290026	SO:0001819	synonymous_variant	146894	exon5			BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.861C>T	17.37:g.41934500C>T			39290026	NM_001168323	B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Silent	SNP	ENST00000317310.4	37	CCDS11470.1																																																																																				0.567	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273	
ITGA2B	3674	broad.mit.edu	37	17	42457802	42457802	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:42457802G>T	ENST00000262407.5	-	15	1527	c.1496C>A	c.(1495-1497)cCt>cAt	p.P499H	ITGA2B_ENST00000353281.4_Missense_Mutation_p.P499H|ITGA2B_ENST00000377068.3_3'UTR	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	499					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.P499H(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CTTCACAGCAGGATTCAGTGA	0.562																																					p.P499H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1496A	17						.						87.0	71.0	76.0					17																	42457802		2203	4300	6503	39813328	SO:0001583	missense	3674	exon15				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1496C>A	17.37:g.42457802G>T	ENSP00000262407:p.Pro499His		39813328	NM_000419	B2RCY8|O95366|Q14443|Q17R67	De_novo_Start_OutOfFrame	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678748	0.68042	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.48201	0.82;0.82	4.78	4.78	0.61160	Integrin alpha-2 (1);	0.000000	0.34932	N	0.003579	T	0.73783	0.3631	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79732	-0.1680	10	0.72032	D	0.01	.	16.7441	0.85467	0.0:0.0:1.0:0.0	.	499	P08514	ITA2B_HUMAN	H	499	ENSP00000262407:P499H;ENSP00000340536:P499H	ENSP00000262407:P499H	P	-	2	0	ITGA2B	39813328	1.000000	0.71417	0.990000	0.47175	0.881000	0.50899	3.207000	0.51106	2.486000	0.83907	0.561000	0.74099	CCT		0.562	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1		
EFTUD2	9343	broad.mit.edu	37	17	42964104	42964104	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:42964104G>A	ENST00000426333.2	-	3	417	c.120C>T	c.(118-120)gaC>gaT	p.D40D	EFTUD2_ENST00000591382.1_Silent_p.D40D|RN7SL405P_ENST00000582502.1_RNA|EFTUD2_ENST00000589211.1_5'UTR|EFTUD2_ENST00000592576.1_Silent_p.D40D|EFTUD2_ENST00000402521.3_Silent_p.D5D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	40					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.D40D(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				catcgtcgtcgtcatcatcat	0.517																																					p.D40D	Ovarian(10;65 485 10258 29980 30707)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C120T	17						.						125.0	81.0	96.0					17																	42964104		2203	4300	6503	40319630	SO:0001819	synonymous_variant	9343	exon3			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.120C>T	17.37:g.42964104G>A			40319630	NM_004247	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP	ENST00000426333.2	37	CCDS11489.1																																																																																				0.517	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247	
HEXIM2	124790	broad.mit.edu	37	17	43246422	43246422	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:43246422G>A	ENST00000307275.3	+	4	543	c.107G>A	c.(106-108)cGt>cAt	p.R36H	RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.R36H|RP13-890H12.2_ENST00000589451.1_RNA|HEXIM2_ENST00000592695.1_Missense_Mutation_p.R36H	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	36					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)	p.R36H(1)		endometrium(1)|large_intestine(3)|lung(1)	5						CCCCCTGAGCGTCATGACTCT	0.612																																					p.R36H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G107A	17						.						145.0	163.0	157.0					17																	43246422		2203	4300	6503	40602205	SO:0001583	missense	124790	exon4			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.107G>A	17.37:g.43246422G>A	ENSP00000302276:p.Arg36His		40602205	NM_144608	D3DX66	Missense_Mutation	SNP	ENST00000307275.3	37	CCDS11496.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301833	0.40694	.	.	ENSG00000168517	ENST00000307275	.	.	.	5.24	4.27	0.50696	.	0.629831	0.16141	N	0.227737	T	0.16085	0.0387	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16689	-1.0394	9	0.37606	T	0.19	-0.1951	12.0705	0.53613	0.0:0.8259:0.1741:0.0	.	36	Q96MH2	HEXI2_HUMAN	H	36	.	ENSP00000302276:R36H	R	+	2	0	HEXIM2	40602205	0.279000	0.24239	0.009000	0.14445	0.221000	0.24807	1.488000	0.35551	1.214000	0.43395	-0.228000	0.12330	CGT		0.612	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450181.1	NM_144608	
MYBBP1A	10514	broad.mit.edu	37	17	4442902	4442902	+	Silent	SNP	G	G	A	rs201681236		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:4442902G>A	ENST00000254718.4	-	26	4101	c.3795C>T	c.(3793-3795)ccC>ccT	p.P1265P	MYBBP1A_ENST00000381556.2_Silent_p.P1265P			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1265	Required for nuclear and nucleolar localization. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)	p.P1265P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGGGGGACCCGGGAGCTCCAT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		13469	0.0		0.001	False		,,,				2504	0.0				p.P1265P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3795T	17						.	G	,,	0,4406		0,0,2203	115.0	127.0	123.0		3795,,3795	-3.4	0.0	17		123	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,utr-3,coding-synonymous	MYBBP1A,SPNS2	NM_001105538.1,NM_001124758.1,NM_014520.3	,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	1265/1333,,1265/1329	4442902	3,13003	2203	4300	6503	4389651	SO:0001819	synonymous_variant	10514	exon26			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3795C>T	17.37:g.4442902G>A			4389651	NM_014520	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	CCDS11046.1																																																																																				0.617	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520	
SPPL2C	162540	broad.mit.edu	37	17	43923369	43923369	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:43923369G>A	ENST00000329196.5	+	1	1114	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	366						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)	p.R366H(1)									GTCCTGCACCGTGTGCGGCTG	0.587																																					p.R366H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1097A	17						.						61.0	58.0	59.0					17																	43923369		2203	4300	6503	41279149	SO:0001583	missense	162540	exon1				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1097G>A	17.37:g.43923369G>A	ENSP00000332488:p.Arg366His		41279149	NM_175882	Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	CCDS32673.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917611	0.33815	.	.	ENSG00000185294	ENST00000329196	T	0.17691	2.26	5.57	4.6	0.57074	.	0.000000	0.44483	D	0.000448	T	0.28995	0.0720	L	0.59436	1.845	0.20196	N	0.999927	D	0.59357	0.985	P	0.56788	0.806	T	0.06679	-1.0813	10	0.62326	D	0.03	-5.1293	9.3733	0.38268	0.0947:0.0:0.9053:0.0	.	366	Q8IUH8	IMP5_HUMAN	H	366	ENSP00000332488:R366H	ENSP00000332488:R366H	R	+	2	0	AC217771.1	41279149	0.148000	0.22702	0.261000	0.24466	0.003000	0.03518	1.036000	0.30228	2.619000	0.88677	0.561000	0.74099	CGT		0.587	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882	
HOXB5	3215	broad.mit.edu	37	17	46670754	46670754	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:46670754G>A	ENST00000239151.5	-	1	569	c.291C>T	c.(289-291)ccC>ccT	p.P97P	HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474324.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	97					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.P97P(1)		large_intestine(1)|lung(2)	3						GCAGGGACTCGGGCGAGGACA	0.716																																					p.P97P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C291T	17						.						17.0	21.0	19.0					17																	46670754		2200	4297	6497	44025753	SO:0001819	synonymous_variant	3215	exon1				CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.291C>T	17.37:g.46670754G>A			44025753	NM_002147	B2RC69|P09069|Q17RP4	Silent	SNP	ENST00000239151.5	37	CCDS11530.1																																																																																				0.716	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2		
HOXB6	3216	broad.mit.edu	37	17	46673911	46673911	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:46673911G>A	ENST00000484302.2	-	3	1161	c.539C>T	c.(538-540)gCg>gTg	p.A180V	HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB6_ENST00000490419.1_5'Flank|HOXB5_ENST00000239151.5_5'Flank|HOXB6_ENST00000225648.3_Missense_Mutation_p.A180V|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474324.1_RNA			P17509	HXB6_HUMAN	homeobox B6	180					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte homeostasis (GO:0034101)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A180V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						CAGGGCGTGCGCGATCTCGAT	0.592																																					p.A180V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C539T	17						.						148.0	135.0	139.0					17																	46673911		2203	4300	6503	44028910	SO:0001583	missense	3216	exon4				CCDS11531.1	17q21.32	2011-06-20	2005-12-22		ENSG00000108511	ENSG00000108511		"""Homeoboxes / ANTP class : HOXL subclass"""	5117	protein-coding gene	gene with protein product		142961	"""homeo box B6"""	HOX2, HOX2B		1973146, 1358459	Standard	XM_005257284		Approved		uc002ins.1	P17509	OTTHUMG00000159912	ENST00000484302.2:c.539C>T	17.37:g.46673911G>A	ENSP00000420009:p.Ala180Val		44028910	NM_018952	A8K835|D3DTV5|P09068|Q9HB11|Q9UGH2	Missense_Mutation	SNP	ENST00000484302.2	37	CCDS11531.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597398	0.96602	.	.	ENSG00000108511	ENST00000484302;ENST00000225648	D;D	0.98362	-4.89;-4.89	4.84	4.84	0.62591	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.063724	0.64402	D	0.000009	D	0.99217	0.9728	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99097	1.0842	10	0.87932	D	0	.	17.7415	0.88408	0.0:0.0:1.0:0.0	.	180	P17509	HXB6_HUMAN	V	180	ENSP00000420009:A180V;ENSP00000225648:A180V	ENSP00000225648:A180V	A	-	2	0	HOXB6	44028910	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.552000	0.98115	2.520000	0.84964	0.563000	0.77884	GCG		0.592	HOXB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358146.2		
HOXB7	3217	broad.mit.edu	37	17	46685369	46685369	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:46685369C>T	ENST00000239165.7	-	2	587	c.489G>A	c.(487-489)acG>acA	p.T163T	HOXB7_ENST00000567101.2_5'UTR|HOXB-AS3_ENST00000491264.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000494420.1_RNA	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	163					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T163T(2)		NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						GCCGCCGCCGCGTCAGGTAGC	0.557																																					p.T163T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G489A	17						.						96.0	97.0	97.0					17																	46685369		2203	4300	6503	44040368	SO:0001819	synonymous_variant	3217	exon2				CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	5118	protein-coding gene	gene with protein product		142962	"""homeo box B7"""	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.489G>A	17.37:g.46685369C>T			44040368	NM_004502	A8K3N8|Q15957|Q53FN3|Q96BQ6	Silent	SNP	ENST00000239165.7	37	CCDS11532.1																																																																																				0.557	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358097.3		
HOXB9	3219	broad.mit.edu	37	17	46703219	46703219	+	Missense_Mutation	SNP	A	A	G	rs200221711		TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:46703219A>G	ENST00000311177.5	-	1	620	c.413T>C	c.(412-414)tTg>tCg	p.L138S	HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_Intron|HOXB-AS4_ENST00000480386.1_RNA	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	138					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.L138S(1)		breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CGAAGTTTCCAAACTGTACTC	0.652																																					p.L138S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T413C	17						.						30.0	34.0	33.0					17																	46703219		2203	4300	6503	44058218	SO:0001583	missense	3219	exon1				CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.413T>C	17.37:g.46703219A>G	ENSP00000309439:p.Leu138Ser		44058218	NM_024017	B2RDB7|Q9H1I1	Missense_Mutation	SNP	ENST00000311177.5	37	CCDS11534.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.887606	0.52014	.	.	ENSG00000170689	ENST00000311177	D	0.93811	-3.29	4.84	4.84	0.62591	Hox9, N-terminal activation domain (1);	0.180985	0.36268	N	0.002686	D	0.89100	0.6619	L	0.43923	1.385	0.80722	D	1	P	0.37914	0.611	B	0.37888	0.26	D	0.86306	0.1683	10	0.20519	T	0.43	.	11.1217	0.48293	0.8619:0.0:0.0:0.1381	.	138	P17482	HXB9_HUMAN	S	138	ENSP00000309439:L138S	ENSP00000309439:L138S	L	-	2	0	HOXB9	44058218	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.698000	0.68302	1.920000	0.55613	0.454000	0.30748	TTG		0.652	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2		
LRRC59	55379	broad.mit.edu	37	17	48460470	48460470	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:48460470A>T	ENST00000225972.7	-	7	1038	c.803T>A	c.(802-804)gTg>gAg	p.V268E		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	268						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V268E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CAGCTCTGTCACCCGACAAGC	0.617																																					p.V268E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T803A	17						.						41.0	32.0	36.0					17																	48460470		2203	4295	6498	45815469	SO:0001583	missense	55379	exon7			AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.803T>A	17.37:g.48460470A>T	ENSP00000225972:p.Val268Glu		45815469	NM_018509	B2RE83|D3DTX8|Q9P189	Missense_Mutation	SNP	ENST00000225972.7	37	CCDS11566.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.899734	0.52227	.	.	ENSG00000108829	ENST00000225972	T	0.46819	0.86	5.77	4.63	0.57726	.	0.258981	0.39146	N	0.001450	T	0.39145	0.1067	L	0.40543	1.245	0.80722	D	1	B	0.22604	0.072	B	0.19666	0.026	T	0.35699	-0.9778	10	0.66056	D	0.02	.	11.4163	0.49954	0.8494:0.1506:0.0:0.0	.	268	Q96AG4	LRC59_HUMAN	E	268	ENSP00000225972:V268E	ENSP00000225972:V268E	V	-	2	0	LRRC59	45815469	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.624000	0.61254	2.214000	0.71695	0.372000	0.22366	GTG		0.617	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2	NM_018509	
SPATA20	64847	broad.mit.edu	37	17	48627594	48627594	+	Missense_Mutation	SNP	G	G	A	rs368022155		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:48627594G>A	ENST00000356488.4	+	8	1054	c.971G>A	c.(970-972)cGc>cAc	p.R324H	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.R280H|SPATA20_ENST00000006658.6_Missense_Mutation_p.R340H	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	324					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)	p.R340H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TCCACAGACCGCCAGTGGCAC	0.632											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		16305	0.0		0.0	False		,,,				2504	0.0				p.R340H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1019A	17						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	77.0	77.0		1019	4.8	1.0	17		77	0,8600		0,0,4300	no	missense	SPATA20	NM_022827.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	340/803	48627594	1,13005	2203	4300	6503	45982593	SO:0001583	missense	64847	exon9				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.971G>A	17.37:g.48627594G>A	ENSP00000348878:p.Arg324His	119	45982593	NM_022827	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154287	0.57259	2.27E-4	0.0	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.30448	1.53;1.53;1.53	5.81	4.84	0.62591	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.308916	0.37219	N	0.002182	T	0.25568	0.0622	L	0.56396	1.775	0.27804	N	0.942362	P;P	0.45011	0.848;0.681	B;B	0.36808	0.233;0.15	T	0.35822	-0.9773	10	0.48119	T	0.1	-6.1238	8.2134	0.31496	0.2451:0.0:0.7549:0.0	.	324;340	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	H	340;324;280	ENSP00000006658:R340H;ENSP00000348878:R324H;ENSP00000376935:R280H	ENSP00000006658:R340H	R	+	2	0	SPATA20	45982593	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.245000	0.51407	2.746000	0.94184	0.655000	0.94253	CGC		0.632	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827	
WFIKKN2	124857	broad.mit.edu	37	17	48917620	48917620	+	Missense_Mutation	SNP	C	C	T	rs141860715		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:48917620C>T	ENST00000311378.4	+	2	1499	c.971C>T	c.(970-972)cCg>cTg	p.P324L	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P231L	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	324					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P324L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ACGGCTTTCCCGGCGGCCGAG	0.647																																					p.P324L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C971T	17						.	C	LEU/PRO	3,4403	6.2+/-15.9	0,3,2200	48.0	44.0	45.0		971	5.4	0.9	17	dbSNP_134	45	1,8599		0,1,4299	yes	missense	WFIKKN2	NM_175575.5	98	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	benign	324/577	48917620	4,13002	2203	4300	6503	46272619	SO:0001583	missense	124857	exon2			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.971C>T	17.37:g.48917620C>T	ENSP00000311184:p.Pro324Leu		46272619	NM_175575	Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	C	9.861	1.196203	0.22037	6.81E-4	1.16E-4	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.56275	0.47;0.47	5.45	5.45	0.79879	Proteinase inhibitor I2, Kunitz metazoa (1);	0.000000	0.85682	D	0.000000	T	0.47192	0.1432	L	0.45581	1.43	0.80722	D	1	B	0.25521	0.128	B	0.14578	0.011	T	0.37337	-0.9710	10	0.19590	T	0.45	.	19.2734	0.94019	0.0:1.0:0.0:0.0	.	324	Q8TEU8	WFKN2_HUMAN	L	231;324	ENSP00000405889:P231L;ENSP00000311184:P324L	ENSP00000311184:P324L	P	+	2	0	WFIKKN2	46272619	0.996000	0.38824	0.945000	0.38365	0.009000	0.06853	3.954000	0.56708	2.537000	0.85549	0.655000	0.94253	CCG		0.647	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575	
CUEDC1	404093	broad.mit.edu	37	17	55950157	55950157	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:55950157C>T	ENST00000577830.1	-	5	1064	c.651G>A	c.(649-651)ggG>ggA	p.G217G	CUEDC1_ENST00000578357.1_5'Flank|CUEDC1_ENST00000360238.2_Silent_p.G217G|CUEDC1_ENST00000577840.1_Silent_p.G80G|CUEDC1_ENST00000407144.2_Silent_p.G217G	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	217								p.G217G(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CGGGCCCTGGCCCAGCCATGG	0.612																																					p.G217G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G651A	17						.						70.0	65.0	67.0					17																	55950157		2203	4300	6503	53305156	SO:0001819	synonymous_variant	404093	exon5			AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.651G>A	17.37:g.55950157C>T			53305156	NM_017949	D3DTZ2|Q9NWD0	Silent	SNP	ENST00000577830.1	37	CCDS11599.1																																																																																				0.612	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1	NM_017949	
EPX	8288	broad.mit.edu	37	17	56271143	56271143	+	Missense_Mutation	SNP	G	G	A	rs369339605		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:56271143G>A	ENST00000225371.5	+	4	525	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	139					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.E139K(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GGACCAGGCCGAGCGCTGCAG	0.657																																					p.E139K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G415A	17						.	G	LYS/GLU	2,4404	2.1+/-5.4	0,2,2201	37.0	33.0	34.0		415	4.6	0.8	17		34	0,8600		0,0,4300	no	missense	EPX	NM_000502.4	56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	139/716	56271143	2,13004	2203	4300	6503	53626142	SO:0001583	missense	8288	exon4			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.415G>A	17.37:g.56271143G>A	ENSP00000225371:p.Glu139Lys		53626142	NM_000502	Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	9.801	1.180569	0.21787	4.54E-4	0.0	ENSG00000121053	ENST00000225371	T	0.70399	-0.48	4.6	4.6	0.57074	.	0.309988	0.34959	N	0.003557	T	0.59197	0.2176	M	0.63428	1.95	0.09310	N	1	P	0.37612	0.602	B	0.27796	0.083	T	0.54043	-0.8352	10	0.24483	T	0.36	-26.4847	9.0188	0.36186	0.1029:0.0:0.8971:0.0	.	139	P11678	PERE_HUMAN	K	139	ENSP00000225371:E139K	ENSP00000225371:E139K	E	+	1	0	EPX	53626142	0.459000	0.25768	0.822000	0.32727	0.017000	0.09413	3.558000	0.53749	2.263000	0.75096	0.442000	0.29010	GAG		0.657	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502	
MPO	4353	broad.mit.edu	37	17	56349219	56349219	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:56349219C>T	ENST00000225275.3	-	11	2003	c.1827G>A	c.(1825-1827)ccG>ccA	p.P609P	MPO_ENST00000340482.3_Silent_p.P641P	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	609					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.P609P(2)		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)	TTTCAGGCTGCGGGAGCCCAC	0.597																																					p.P609P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G1827A	17						.						89.0	74.0	79.0					17																	56349219		2203	4300	6503	53704218	SO:0001819	synonymous_variant	4353	exon11				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.1827G>A	17.37:g.56349219C>T			53704218	NM_000250	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	CCDS11604.1																																																																																				0.597	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1		
SEPT4	5414	broad.mit.edu	37	17	56603076	56603076	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:56603076C>T	ENST00000317268.3	-	4	694	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	SEPT4_ENST00000580791.1_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_Missense_Mutation_p.R165Q|SEPT4_ENST00000317256.6_Missense_Mutation_p.R154Q|SEPT4_ENST00000579371.1_Missense_Mutation_p.R74Q|SEPT4_ENST00000583114.1_Missense_Mutation_p.R26Q|SEPT4_ENST00000580809.1_Missense_Mutation_p.R55Q|SEPT4_ENST00000457347.2_Missense_Mutation_p.R188Q|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000426861.1_Missense_Mutation_p.R154Q|SEPT4_ENST00000580844.1_Missense_Mutation_p.R74Q|SEPT4_ENST00000393086.1_Missense_Mutation_p.R154Q	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	173	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.R173Q(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGAAGTTTCCGGTCCCGGTA	0.527																																					p.R154Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G461A	17						.						110.0	96.0	100.0					17																	56603076		2203	4300	6503	53958075	SO:0001583	missense	5414	exon4			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.518G>A	17.37:g.56603076C>T	ENSP00000321674:p.Arg173Gln		53958075	NM_080416	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972483	0.53614	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.94	4.94	0.65067	.	0.058893	0.64402	D	0.000003	T	0.60830	0.2299	L	0.39147	1.195	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.99;0.994;1.0;0.998;1.0	D;D;P;P;D;D;D	0.91635	0.999;0.993;0.838;0.886;0.999;0.965;0.999	T	0.62950	-0.6745	10	0.87932	D	0	.	16.0453	0.80717	0.0:1.0:0.0:0.0	.	165;188;26;154;154;26;173	O43236-3;O43236-4;B3KR63;O43236-6;O43236-2;O43236-5;O43236	.;.;.;.;.;.;SEPT4_HUMAN	Q	165;187;154;173;154;154	ENSP00000414779:R165Q;ENSP00000321071:R154Q;ENSP00000321674:R173Q;ENSP00000376801:R154Q;ENSP00000402348:R154Q	ENSP00000321071:R154Q	R	-	2	0	SEPT4	53958075	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.933000	0.70130	2.726000	0.93360	0.655000	0.94253	CGG		0.527	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417	
MED13	9969	broad.mit.edu	37	17	60042367	60042367	+	Splice_Site	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:60042367C>A	ENST00000397786.2	-	20	4920	c.4844G>T	c.(4843-4845)aGc>aTc	p.S1615I		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1615					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S1615I(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTAAAGGTACCTTTCAGACAC	0.423																																					p.S1615I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4844T	17						.						50.0	49.0	49.0					17																	60042367		1866	4102	5968	57397149	SO:0001630	splice_region_variant	9969	exon20			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4844+1G>T	17.37:g.60042367C>A			57397149	NM_005121	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767384	0.90020	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.78364	-1.17	5.95	5.95	0.96441	.	0.109206	0.85682	D	0.000000	D	0.87684	0.6239	M	0.66939	2.045	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	D	0.85593	0.1247	9	.	.	.	-19.4576	20.4024	0.99000	0.0:1.0:0.0:0.0	.	1615	Q9UHV7	MED13_HUMAN	I	1615;1614	ENSP00000380888:S1615I	.	S	-	2	0	MED13	57397149	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.178000	0.71968	2.827000	0.97445	0.650000	0.86243	AGC		0.423	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	Missense_Mutation
MED13	9969	broad.mit.edu	37	17	60062172	60062172	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:60062172A>G	ENST00000397786.2	-	14	2607	c.2531T>C	c.(2530-2532)aTt>aCt	p.I844T		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	844					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.I844T(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAATCCCATAATATGTTGTTC	0.323																																					p.I844T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2531C	17						.						69.0	63.0	65.0					17																	60062172		1812	4066	5878	57416954	SO:0001583	missense	9969	exon14			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2531T>C	17.37:g.60062172A>G	ENSP00000380888:p.Ile844Thr		57416954	NM_005121	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.715144	0.68844	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.73681	-0.77	6.16	6.16	0.99307	.	0.048330	0.85682	D	0.000000	T	0.67297	0.2878	L	0.36672	1.1	0.53688	D	0.999972	P	0.47106	0.89	B	0.43413	0.419	T	0.64437	-0.6408	10	0.11794	T	0.64	-15.6346	16.8061	0.85666	1.0:0.0:0.0:0.0	.	844	Q9UHV7	MED13_HUMAN	T	844;843	ENSP00000380888:I844T	ENSP00000262436:I843T	I	-	2	0	MED13	57416954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	ATT		0.323	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
SCN4A	6329	broad.mit.edu	37	17	62049725	62049725	+	Missense_Mutation	SNP	C	C	T	rs369830835		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:62049725C>T	ENST00000435607.1	-	2	455	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	SCN4A_ENST00000578147.1_Missense_Mutation_p.V127M|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	127					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.V127M(1)|p.V127L(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)	TGGATGAGCACCTTGATGGCC	0.617																																					p.V127M												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G379A	17						.	C	MET/VAL	0,4298		0,0,2149	59.0	63.0	62.0		379	3.2	1.0	17		62	1,8511		0,1,4255	no	missense	SCN4A	NM_000334.4	21	0,1,6404	TT,TC,CC		0.0117,0.0,0.0078	possibly-damaging	127/1837	62049725	1,12809	2149	4256	6405	59403457	SO:0001583	missense	6329	exon2			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.379G>A	17.37:g.62049725C>T	ENSP00000396320:p.Val127Met		59403457	NM_000334	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795753	0.31777	0.0	1.17E-4	ENSG00000007314	ENST00000435607	D	0.96522	-4.04	4.23	3.22	0.36961	.	1.043120	0.07526	N	0.911422	D	0.95392	0.8504	M	0.78049	2.395	0.27148	N	0.961473	B	0.33494	0.414	B	0.28916	0.096	D	0.90850	0.4730	10	0.62326	D	0.03	.	11.6221	0.51124	0.0:0.9101:0.0:0.0899	.	127	P35499	SCN4A_HUMAN	M	127	ENSP00000396320:V127M	ENSP00000396320:V127M	V	-	1	0	SCN4A	59403457	0.286000	0.24305	1.000000	0.80357	0.329000	0.28539	0.241000	0.18065	2.188000	0.69820	0.313000	0.20887	GTG		0.617	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
GNA13	10672	broad.mit.edu	37	17	63010573	63010573	+	Silent	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:63010573A>G	ENST00000439174.2	-	4	1181	c.936T>C	c.(934-936)ttT>ttC	p.F312F	GNA13_ENST00000541118.1_Silent_p.F217F	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	312					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)	p.F312F(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GATCCCCTTCAAATTCTAGGA	0.448																																					p.F312F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T936C	17						.						93.0	91.0	92.0					17																	63010573		2203	4300	6503	60441035	SO:0001819	synonymous_variant	10672	exon4			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.936T>C	17.37:g.63010573A>G			60441035	NM_006572	B2R977|B7Z7R0|F5H1G8|Q8TD70	Silent	SNP	ENST00000439174.2	37	CCDS11661.1																																																																																				0.448	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572	
AXIN2	8313	broad.mit.edu	37	17	63545763	63545763	+	Silent	SNP	G	G	A	rs186951572	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:63545763G>A	ENST00000375702.5	-	2	939	c.831C>T	c.(829-831)agC>agT	p.S277S	AXIN2_ENST00000307078.5_Silent_p.S277S|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	277					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.S277S(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TAACAGGATCGCTCCTCTTGA	0.507									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				G|||	2	0.000399361	0.0	0.0	5008	,	,		23231	0.002		0.0	False		,,,				2504	0.0				p.S277S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C831T	17						.						117.0	86.0	96.0					17																	63545763		2203	4298	6501	60976225	SO:0001819	synonymous_variant	8313	exon3	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.831C>T	17.37:g.63545763G>A			60976225	NM_004655	Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37																																																																																					0.507	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655	
KIAA0753	9851	broad.mit.edu	37	17	6513474	6513474	+	Missense_Mutation	SNP	G	G	A	rs370311617		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:6513474G>A	ENST00000361413.3	-	9	1910	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	KIAA0753_ENST00000572370.1_Missense_Mutation_p.R219C|KIAA0753_ENST00000589033.1_5'UTR|KIAA0753_ENST00000542606.1_Missense_Mutation_p.R219C	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	518						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R518C(1)		endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TCAGCTTTGCGGAGTCCCTGT	0.428																																					p.R518C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1552T	17						.	A	CYS/ARG	0,3802		0,0,1901	149.0	142.0	144.0		1552	3.2	0.0	17		144	1,8241		0,1,4120	no	missense	KIAA0753	NM_014804.2	180	0,1,6021	AA,AG,GG		0.0121,0.0,0.0083	possibly-damaging	518/968	6513474	1,12043	1901	4121	6022	6454198	SO:0001583	missense	9851	exon9				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.1552C>T	17.37:g.6513474G>A	ENSP00000355250:p.Arg518Cys		6454198	NM_014804	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	g	14.04	2.417355	0.42918	0.0	1.21E-4	ENSG00000198920	ENST00000361413;ENST00000542606	D;D	0.86164	-2.08;-2.08	5.14	3.16	0.36331	.	1.014290	0.07860	N	0.966163	T	0.81616	0.4860	L	0.40543	1.245	0.80722	D	1	P	0.47106	0.89	B	0.40101	0.319	T	0.71738	-0.4502	10	0.39692	T	0.17	0.9102	8.3041	0.32032	0.1836:0.0:0.8164:0.0	.	518	Q2KHM9	K0753_HUMAN	C	518;219	ENSP00000355250:R518C;ENSP00000444634:R219C	ENSP00000355250:R518C	R	-	1	0	KIAA0753	6454198	0.005000	0.15991	0.001000	0.08648	0.050000	0.14768	1.525000	0.35953	0.698000	0.31739	-0.127000	0.14921	CGC		0.428	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804	
TEKT1	83659	broad.mit.edu	37	17	6704119	6704119	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:6704119G>A	ENST00000338694.2	-	7	1125	c.996C>T	c.(994-996)gtC>gtT	p.V332V	TEKT1_ENST00000535086.1_Silent_p.V186V	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	332			V -> I (in dbSNP:rs2271233).			cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.V332V(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)				TATATTGTGCGACATCACGAC	0.557											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V332V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C996T	17						.						231.0	207.0	215.0					17																	6704119		2203	4300	6503	6644843	SO:0001819	synonymous_variant	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.996C>T	17.37:g.6704119G>A		636	6644843	NM_053285	D3DTM7	Silent	SNP	ENST00000338694.2	37	CCDS11083.1																																																																																				0.557	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285	
ABCA9	10350	broad.mit.edu	37	17	66982383	66982383	+	Missense_Mutation	SNP	A	A	G	rs137862082		TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:66982383A>G	ENST00000340001.4	-	32	4341	c.4130T>C	c.(4129-4131)cTg>cCg	p.L1377P	ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000453985.2_Missense_Mutation_p.L1339P|ABCA9_ENST00000370732.2_Missense_Mutation_p.L1377P	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1377	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L1377P(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)					CCTCACTGTCAGGTTGGGCCA	0.582																																					p.L1377P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4130C	17						.	A	PRO/LEU	1,4405	2.1+/-5.4	0,1,2202	134.0	108.0	117.0		4130	4.9	0.9	17	dbSNP_134	117	0,8600		0,0,4300	no	missense	ABCA9	NM_080283.3	98	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	1377/1625	66982383	1,13005	2203	4300	6503	64493978	SO:0001583	missense	10350	exon32			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.4130T>C	17.37:g.66982383A>G	ENSP00000342216:p.Leu1377Pro		64493978	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179428	0.57800	2.27E-4	0.0	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	T;T	0.17213	2.29;2.29	4.87	4.87	0.63330	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.187524	0.25566	N	0.029797	T	0.53045	0.1772	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.67300	-0.5705	10	0.87932	D	0	.	13.9762	0.64275	1.0:0.0:0.0:0.0	.	1377;1377	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	P	1377;1322;1377	ENSP00000342216:L1377P;ENSP00000359767:L1377P	ENSP00000342216:L1377P	L	-	2	0	ABCA9	64493978	0.971000	0.33674	0.852000	0.33557	0.145000	0.21501	8.435000	0.90297	1.964000	0.57103	0.533000	0.62120	CTG		0.582	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
C17orf80	55028	broad.mit.edu	37	17	71231873	71231873	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:71231873C>T	ENST00000535032.2	+	2	365	c.252C>T	c.(250-252)gaC>gaT	p.D84D	C17orf80_ENST00000255557.4_Silent_p.D84D|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000359042.2_Silent_p.D84D|C17orf80_ENST00000268942.8_Silent_p.D84D|C17orf80_ENST00000577615.1_Silent_p.D84D|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000426147.2_Silent_p.D84D			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	84						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D84D(1)		kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TGGTGGTGGACAAACCAGAAC	0.393																																					p.D84D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C252T	17						.						64.0	58.0	60.0					17																	71231873		2203	4300	6503	68743468	SO:0001819	synonymous_variant	55028	exon3			AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.252C>T	17.37:g.71231873C>T			68743468	NM_001100622	A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	CCDS11694.1																																																																																				0.393	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941	
CD300E	342510	broad.mit.edu	37	17	72610104	72610104	+	Nonsense_Mutation	SNP	G	G	A	rs61748965	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:72610104G>A	ENST00000328630.3	-	3	497	c.457C>T	c.(457-459)Cga>Tga	p.R153*	CD300E_ENST00000426295.2_Nonsense_Mutation_p.R194*|CD300E_ENST00000392619.1_Nonsense_Mutation_p.R180*			Q496F6	CLM2_HUMAN	CD300e molecule	153					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R153*(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CTGAGGTTTCGCCCAGGGTTC	0.587																																					p.R153X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C457T	17						.	G	stop/ARG	4,4402	9.9+/-24.2	0,4,2199	134.0	106.0	116.0		457	2.1	0.0	17	dbSNP_129	116	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	CD300E	NM_181449.2		0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384		153/206	72610104	5,13001	2203	4300	6503	70121699	SO:0001587	stop_gained	342510	exon3			BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.457C>T	17.37:g.72610104G>A	ENSP00000329942:p.Arg153*		70121699	NM_181449	B4DNS1|Q7Z7I3	Nonsense_Mutation	SNP	ENST00000328630.3	37	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153735	0.38021	9.08E-4	1.16E-4	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630	.	.	.	3.07	2.07	0.26955	.	1.788950	0.04014	U	0.298664	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	0.194	6.3899	0.21581	0.1409:0.0:0.8591:0.0	.	.	.	.	X	180;194;153	.	ENSP00000329942:R153X	R	-	1	2	CD300E	70121699	0.037000	0.19845	0.002000	0.10522	0.007000	0.05969	0.444000	0.21661	0.842000	0.35045	0.411000	0.27672	CGA		0.587	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449	
RAB37	326624	broad.mit.edu	37	17	72725504	72725504	+	Splice_Site	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:72725504C>T	ENST00000340415.3	+	2	1191	c.182C>T	c.(181-183)aCg>aTg	p.T61M	RAB37_ENST00000402449.4_Splice_Site_p.T61M	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	68					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)	p.T61M(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						ATCGGATTCACGGTAAGCACT	0.602																																					p.T61M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C182T	17						.						129.0	108.0	115.0					17																	72725504		2203	4300	6503	70237099	SO:0001630	splice_region_variant	326624	exon2			BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000340415.3:c.183+1C>T	17.37:g.72725504C>T			70237099	NM_175738	A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000340415.3	37		.	.	.	.	.	.	.	.	.	.	c	17.52	3.410980	0.62399	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000392617	T;T	0.80214	-1.35;-1.35	5.27	5.27	0.74061	.	.	.	.	.	T	0.79667	0.4485	N	0.10916	0.065	0.80722	D	1	B;B;D	0.69078	0.056;0.069;0.997	B;B;D	0.62955	0.044;0.045;0.909	D	0.84284	0.0496	9	0.87932	D	0	.	16.752	0.85488	0.0:1.0:0.0:0.0	.	61;61;61	Q96AX2-2;A8MSP2;A8MUU7	.;.;.	M	61	ENSP00000341354:T61M;ENSP00000383934:T61M	ENSP00000341354:T61M	T	+	2	0	RAB37	70237099	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.372000	0.66156	2.503000	0.84419	0.639000	0.83563	ACG		0.602	RAB37-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000258876.2	NM_175738	Missense_Mutation
USH1G	124590	broad.mit.edu	37	17	72916632	72916632	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:72916632G>A	ENST00000319642.1	-	2	481	c.299C>T	c.(298-300)aCg>aTg	p.T100M		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	100					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)	p.T100M(1)	HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GTCCAGCGGCGTGTGGTAGTC	0.607																																					p.T100M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C299T	17						.						120.0	97.0	105.0					17																	72916632		2203	4300	6503	70428227	SO:0001583	missense	124590	exon2			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.299C>T	17.37:g.72916632G>A	ENSP00000320076:p.Thr100Met		70428227	NM_173477	Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977882	0.74360	.	.	ENSG00000182040	ENST00000319642	T	0.75154	-0.91	3.8	3.8	0.43715	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.93998	0.7273	10	0.87932	D	0	-17.941	16.2003	0.82067	0.0:0.0:1.0:0.0	.	100	Q495M9	USH1G_HUMAN	M	100	ENSP00000320076:T100M	ENSP00000320076:T100M	T	-	2	0	USH1G	70428227	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.535000	0.98064	2.118000	0.64928	0.313000	0.20887	ACG		0.607	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477	
SRP68	6730	broad.mit.edu	37	17	74060169	74060169	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:74060169C>T	ENST00000307877.2	-	4	610	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	SRP68_ENST00000539137.1_Missense_Mutation_p.R112Q|SRP68_ENST00000355113.5_Missense_Mutation_p.R49Q	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	150					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.R150Q(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						AAACCGTTTTCGGGGTTCAGT	0.502																																					p.R150Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G449A	17						.						189.0	161.0	170.0					17																	74060169		2203	4300	6503	71571764	SO:0001583	missense	6730	exon4			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.449G>A	17.37:g.74060169C>T	ENSP00000312066:p.Arg150Gln		71571764	NM_014230	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	C	36	5.730427	0.96856	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.77922	0.4203	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.998;0.999	D;P	0.75484	0.986;0.797	T	0.78319	-0.2250	9	0.59425	D	0.04	-19.2274	19.1447	0.93459	0.0:1.0:0.0:0.0	.	112;150	G3V1U4;Q9UHB9	.;SRP68_HUMAN	Q	112;150;150;150;49	.	ENSP00000307756:R150Q	R	-	2	0	SRP68	71571764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.564000	0.82326	2.753000	0.94483	0.585000	0.79938	CGA		0.502	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230	
FOXJ1	2302	broad.mit.edu	37	17	74136147	74136147	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:74136147G>A	ENST00000322957.6	-	2	684	c.330C>T	c.(328-330)gaC>gaT	p.D110D	RNF157_ENST00000589912.1_5'Flank|RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	110					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.D110D(1)		large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			AGTCCACGTCGTCGGGGGGTG	0.706																																					p.D110D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C330T	17						.						41.0	35.0	37.0					17																	74136147		2203	4300	6503	71647742	SO:0001819	synonymous_variant	2302	exon2			X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"""Forkhead boxes"""	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.330C>T	17.37:g.74136147G>A			71647742	NM_001454	O00630	Silent	SNP	ENST00000322957.6	37	CCDS32739.1																																																																																				0.706	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454	
ST6GALNAC1	55808	broad.mit.edu	37	17	74639698	74639698	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:74639698C>T	ENST00000156626.7	-	1	222	c.23G>A	c.(22-24)tGc>tAc	p.C8Y	ST6GALNAC1_ENST00000589992.1_Missense_Mutation_p.C8Y|ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	8					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.C8Y(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CAGGTGCCTGCATCTCCACAG	0.562																																					p.C8Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G23A	17						.						80.0	70.0	73.0					17																	74639698		2203	4300	6503	72151293	SO:0001583	missense	55808	exon1			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.23G>A	17.37:g.74639698C>T	ENSP00000156626:p.Cys8Tyr		72151293	NM_018414	Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	C	9.084	1.000016	0.19121	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.25749	1.79;1.78	3.05	-2.36	0.06663	.	3.719150	0.00639	N	0.000512	T	0.20941	0.0504	L	0.38175	1.15	0.09310	N	1	B	0.30361	0.277	B	0.28139	0.086	T	0.29181	-1.0020	10	0.66056	D	0.02	-1.6619	6.5202	0.22271	0.2869:0.5929:0.1202:0.0	.	8	Q9NSC7	SIA7A_HUMAN	Y	8	ENSP00000156626:C8Y;ENSP00000351991:C8Y	ENSP00000156626:C8Y	C	-	2	0	ST6GALNAC1	72151293	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.767000	0.04720	-0.530000	0.06349	-0.397000	0.06425	TGC		0.562	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414	
NLGN2	57555	broad.mit.edu	37	17	7319114	7319114	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:7319114G>A	ENST00000302926.2	+	6	1395	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	NLGN2_ENST00000575301.1_Missense_Mutation_p.R441Q	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	441					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.R441Q(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TGGGCCGACCGGGACAATGGC	0.567																																					p.R441Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1322A	17						.						91.0	88.0	89.0					17																	7319114		2203	4300	6503	7259838	SO:0001583	missense	57555	exon6			AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1322G>A	17.37:g.7319114G>A	ENSP00000305288:p.Arg441Gln		7259838	NM_020795	Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852812	0.91355	.	.	ENSG00000169992	ENST00000302926	T	0.67171	-0.25	5.41	5.41	0.78517	Carboxylesterase, type B (1);	0.129093	0.50627	D	0.000112	T	0.60625	0.2283	L	0.41356	1.27	0.80722	D	1	P	0.51240	0.943	B	0.42319	0.383	T	0.63251	-0.6679	10	0.45353	T	0.12	.	16.7464	0.85473	0.0:0.0:1.0:0.0	.	441	Q8NFZ4	NLGN2_HUMAN	Q	441	ENSP00000305288:R441Q	ENSP00000305288:R441Q	R	+	2	0	NLGN2	7259838	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.791000	0.85805	2.826000	0.97356	0.561000	0.74099	CGG		0.567	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795	
MXRA7	439921	broad.mit.edu	37	17	74673728	74673728	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:74673728G>A	ENST00000355797.3	-	4	565	c.557C>T	c.(556-558)aCg>aTg	p.T186M		NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	186						integral component of membrane (GO:0016021)		p.T186M(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CTCGCCAAACGTCTCCTTGTT	0.567																																					p.T186M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C557T	17						.						150.0	128.0	136.0					17																	74673728		2203	4300	6503	72185323	SO:0001583	missense	439921	exon4			BC053983	CCDS32745.1, CCDS32746.1, CCDS45786.1	17q25.1	2007-08-01				ENSG00000182534			7541	protein-coding gene	gene with protein product							Standard	XM_005257382		Approved	FLJ46603, TMAP1, PS1TP1	uc002jsk.1	P84157		ENST00000355797.3:c.557C>T	17.37:g.74673728G>A	ENSP00000348050:p.Thr186Met		72185323	NM_001008528	Q0P5W3	Missense_Mutation	SNP	ENST00000355797.3	37	CCDS32745.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705928	0.68615	.	.	ENSG00000182534	ENST00000355797	T	0.37058	1.22	5.54	5.54	0.83059	.	.	.	.	.	T	0.57844	0.2081	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58912	-0.7552	9	0.87932	D	0	.	18.2683	0.90059	0.0:0.0:1.0:0.0	.	186	P84157	MXRA7_HUMAN	M	186	ENSP00000348050:T186M	ENSP00000348050:T186M	T	-	2	0	MXRA7	72185323	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	8.375000	0.90135	2.611000	0.88343	0.643000	0.83706	ACG		0.567	MXRA7-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450983.1	NM_001008529	
AFMID	125061	broad.mit.edu	37	17	76200772	76200772	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:76200772C>T	ENST00000327898.5	+	5	353	c.344C>T	c.(343-345)aCg>aTg	p.T115M	AFMID_ENST00000591952.1_Intron|AFMID_ENST00000409257.5_Missense_Mutation_p.T115M|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000589664.1_Intron					arylformamidase									p.T115M(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CACCCGCTGACGGCACAGGGA	0.592																																					p.T115M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C344T	17						.						97.0	69.0	78.0					17																	76200772		2203	4300	6503	73712367	SO:0001583	missense	125061	exon5			BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.344C>T	17.37:g.76200772C>T	ENSP00000328938:p.Thr115Met		73712367	NM_001010982		Missense_Mutation	SNP	ENST00000327898.5	37	CCDS45801.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251235	0.39797	.	.	ENSG00000183077	ENST00000409257;ENST00000327898	T;T	0.11821	2.74;2.74	4.89	4.89	0.63831	Alpha/beta hydrolase fold-3 (1);	0.275715	0.35179	N	0.003387	T	0.32255	0.0823	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65773	0.938;0.897	T	0.03807	-1.1002	10	0.62326	D	0.03	-22.9163	7.4995	0.27509	0.0:0.8539:0.0:0.1461	.	115;115	Q63HM1;Q63HM1-2	AFMID_HUMAN;.	M	115	ENSP00000386890:T115M;ENSP00000328938:T115M	ENSP00000328938:T115M	T	+	2	0	AFMID	73712367	0.999000	0.42202	0.892000	0.35008	0.071000	0.16799	3.755000	0.55197	2.521000	0.84997	0.655000	0.94253	ACG		0.592	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889	
TP53	7157	broad.mit.edu	37	17	7579313	7579313	+	Splice_Site	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:7579313G>A	ENST00000269305.4	-	4	563	c.374C>T	c.(373-375)aCg>aTg	p.T125M	TP53_ENST00000420246.2_Splice_Site_p.T125M|TP53_ENST00000359597.4_Splice_Site_p.T125M|TP53_ENST00000413465.2_Splice_Site_p.T125M|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site_p.T125M|TP53_ENST00000445888.2_Splice_Site_p.T125M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125M(16)|p.0?(8)|p.T125K(6)|p.T125R(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAACTGACCGTGCAAGTCAC	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.T125M	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	.	.	42	Substitution - Missense(25)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(1)	large_intestine(8)|upper_aerodigestive_tract(7)|lung(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|central_nervous_system(3)|urinary_tract(3)|breast(2)|stomach(1)|liver(1)|pancreas(1)|prostate(1)	c.C374T	17						.						66.0	62.0	63.0					17																	7579313		2203	4300	6503	7520038	SO:0001630	splice_region_variant	7157	exon4	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1C>T	17.37:g.7579313G>A			7520038	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430623	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	M	0.70787	2.145	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.994;1.0;0.997;1.0	D;D;D;P;D;D;D	0.97110	1.0;0.956;0.986;0.868;0.985;0.981;1.0	D	0.96893	0.9654	10	0.87932	D	0	-16.188	15.6419	0.77012	0.0:0.0:1.0:0.0	.	86;125;125;125;125;125;125	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	125;125;125;125;125;125;114;125;125	ENSP00000410739:T125M;ENSP00000352610:T125M;ENSP00000269305:T125M;ENSP00000398846:T125M;ENSP00000391127:T125M;ENSP00000391478:T125M;ENSP00000424104:T125M;ENSP00000426252:T125M	ENSP00000269305:T125M	T	-	2	0	TP53	7520038	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.798000	0.85924	2.630000	0.89119	0.655000	0.94253	ACG		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation
ENGASE	64772	broad.mit.edu	37	17	77076344	77076344	+	Silent	SNP	C	C	T	rs199791449		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:77076344C>T	ENST00000579016.1	+	5	621	c.621C>T	c.(619-621)gcC>gcT	p.A207A	ENGASE_ENST00000539857.2_Silent_p.A21A	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	207						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.A207A(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCTTCCTGGCCGGGGATGAGC	0.542																																					p.A207A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C621T	17						.	C		0,3958		0,0,1979	59.0	65.0	63.0		621	-9.2	0.6	17		63	1,8303		0,1,4151	no	coding-synonymous	ENGASE	NM_001042573.1		0,1,6130	TT,TC,CC		0.012,0.0,0.0082		207/744	77076344	1,12261	1979	4152	6131	74587939	SO:0001819	synonymous_variant	64772	exon5			AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.621C>T	17.37:g.77076344C>T			74587939	NM_001042573	Q659F0|Q8TB86|Q9H6U4	Silent	SNP	ENST00000579016.1	37	CCDS42394.1																																																																																				0.542	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759	
DNAH2	146754	broad.mit.edu	37	17	7636490	7636490	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:7636490C>T	ENST00000572933.1	+	5	1945	c.485C>T	c.(484-486)aCg>aTg	p.T162M	DNAH2_ENST00000570791.1_Missense_Mutation_p.T162M|DNAH2_ENST00000389173.2_Missense_Mutation_p.T162M|DNAH2_ENST00000082259.3_Missense_Mutation_p.T162M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	162	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.T162M(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGTTTGGGACGGTGCGGGGC	0.562																																					p.T162M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C485T	17						.						100.0	96.0	97.0					17																	7636490		2203	4300	6503	7577215	SO:0001583	missense	146754	exon4			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.485C>T	17.37:g.7636490C>T	ENSP00000458355:p.Thr162Met		7577215	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884298	0.51908	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.57907	0.37;0.37	5.56	3.59	0.41128	.	0.873352	0.09861	N	0.746182	T	0.56411	0.1983	N	0.16368	0.405	0.32614	N	0.524236	D;D	0.76494	0.999;0.999	P;D	0.71870	0.826;0.975	T	0.59215	-0.7496	10	0.48119	T	0.1	.	11.2974	0.49286	0.0:0.8496:0.0:0.1504	.	162;162	Q9P225;Q9P225-3	DYH2_HUMAN;.	M	162	ENSP00000373825:T162M;ENSP00000082259:T162M	ENSP00000082259:T162M	T	+	2	0	DNAH2	7577215	0.992000	0.36948	0.765000	0.31456	0.510000	0.34073	3.005000	0.49521	0.735000	0.32537	-0.126000	0.14955	ACG		0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
CBX2	84733	broad.mit.edu	37	17	77757738	77757738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:77757738C>T	ENST00000310942.4	+	5	600	c.496C>T	c.(496-498)Cga>Tga	p.R166*		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	166					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R166*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GAAGCGGGGACGAAAGCCCCT	0.677																																					p.R166X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C496T	17						.						44.0	48.0	47.0					17																	77757738		2199	4300	6499	75372333	SO:0001587	stop_gained	84733	exon5			BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.496C>T	17.37:g.77757738C>T	ENSP00000308750:p.Arg166*		75372333	NM_005189	Q0VDA5|Q9BTB1	Nonsense_Mutation	SNP	ENST00000310942.4	37	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763335	0.69763	.	.	ENSG00000173894	ENST00000310942	.	.	.	5.47	4.46	0.54185	.	0.343245	0.29846	N	0.011056	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7258	13.3656	0.60682	0.2834:0.7166:0.0:0.0	.	.	.	.	X	166	.	ENSP00000308750:R166X	R	+	1	2	CBX2	75372333	0.994000	0.37717	0.998000	0.56505	0.150000	0.21749	2.959000	0.49153	2.577000	0.86979	0.655000	0.94253	CGA		0.677	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647	
RPTOR	57521	broad.mit.edu	37	17	78858821	78858821	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:78858821C>T	ENST00000306801.3	+	17	2218	c.1856C>T	c.(1855-1857)gCg>gTg	p.A619V	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	619					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.A619V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGCTGCGCAGCGGTCTTCGCC	0.657																																					p.A619V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1856T	17						.						47.0	35.0	39.0					17																	78858821		2200	4299	6499	76473416	SO:0001583	missense	57521	exon17				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.1856C>T	17.37:g.78858821C>T	ENSP00000307272:p.Ala619Val		76473416	NM_020761	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559898	0.45590	.	.	ENSG00000141564	ENST00000306801	T	0.49720	0.77	4.78	4.78	0.61160	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	L	0.52266	1.64	0.80722	D	1	D	0.69078	0.997	P	0.60012	0.867	T	0.52540	-0.8562	10	0.18276	T	0.48	.	17.8063	0.88602	0.0:1.0:0.0:0.0	.	619	Q8N122	RPTOR_HUMAN	V	619	ENSP00000307272:A619V	ENSP00000307272:A619V	A	+	2	0	RPTOR	76473416	1.000000	0.71417	0.094000	0.20943	0.010000	0.07245	7.323000	0.79105	2.209000	0.71365	0.462000	0.41574	GCG		0.657	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	
RPTOR	57521	broad.mit.edu	37	17	78935210	78935210	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:78935210C>T	ENST00000306801.3	+	31	3984	c.3622C>T	c.(3622-3624)Cgg>Tgg	p.R1208W	RPTOR_ENST00000575542.1_3'UTR|CTD-2561B21.3_ENST00000571591.1_RNA|RPTOR_ENST00000544334.2_Missense_Mutation_p.R1050W	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1208					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.R1208W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CATGACGTACCGGGAGCACAC	0.667																																					p.R1208W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3622T	17						.						80.0	46.0	58.0					17																	78935210		2168	4207	6375	76549805	SO:0001583	missense	57521	exon31				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.3622C>T	17.37:g.78935210C>T	ENSP00000307272:p.Arg1208Trp		76549805	NM_020761	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059378	0.55325	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.29917	1.55;1.55	4.27	4.27	0.50696	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.76575	0.988;0.854	T	0.66432	-0.5925	10	0.87932	D	0	.	17.2361	0.86999	0.0:1.0:0.0:0.0	.	1050;1208	F5H7J5;Q8N122	.;RPTOR_HUMAN	W	1208;1050	ENSP00000307272:R1208W;ENSP00000442479:R1050W	ENSP00000307272:R1208W	R	+	1	2	RPTOR	76549805	1.000000	0.71417	0.984000	0.44739	0.281000	0.26958	2.518000	0.45537	2.371000	0.80710	0.591000	0.81541	CGG		0.667	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	
ZNF750	79755	broad.mit.edu	37	17	80788076	80788076	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:80788076G>A	ENST00000269394.3	-	3	2947	c.2114C>T	c.(2113-2115)gCg>gTg	p.A705V	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.A306V|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	705					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A705V(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGCAGCTTCGCCTTCTTAGC	0.567																																					p.A705V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2114T	17						.						122.0	101.0	108.0					17																	80788076		2203	4300	6503	78381365	SO:0001583	missense	79755	exon3			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.2114C>T	17.37:g.80788076G>A	ENSP00000269394:p.Ala705Val		78381365	NM_024702	Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	2.983	-0.209835	0.06140	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.11604	2.76	5.28	-0.647	0.11468	.	1.559540	0.03792	N	0.263027	T	0.06690	0.0171	L	0.27053	0.805	0.09310	N	1	B	0.24132	0.098	B	0.14578	0.011	T	0.33599	-0.9862	9	.	.	.	0.0083	1.0216	0.01519	0.3312:0.2658:0.2669:0.136	.	705	Q32MQ0	ZN750_HUMAN	V	705;298	ENSP00000269394:A705V	.	A	-	2	0	ZNF750	78381365	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-0.130000	0.10498	-0.019000	0.14055	-0.339000	0.08088	GCG		0.567	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702	
TIMM22	29928	broad.mit.edu	37	17	900503	900503	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:900503C>T	ENST00000327158.4	+	1	147	c.121C>T	c.(121-123)Ctc>Ttc	p.L41F		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	41					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)	p.L41F(1)		breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCAGCCCCGGCTCCTGGAGCC	0.647																																					p.L41F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C121T	17						.						29.0	33.0	32.0					17																	900503		2203	4300	6503	847253	SO:0001583	missense	29928	exon1			AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"""testis-expressed sequence 4"""	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.121C>T	17.37:g.900503C>T	ENSP00000320236:p.Leu41Phe		847253	NM_013337	Q9NWI8	Missense_Mutation	SNP	ENST00000327158.4	37	CCDS32521.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994251	0.54041	.	.	ENSG00000177370	ENST00000327158	T	0.44482	0.92	5.42	3.35	0.38373	.	0.569846	0.19102	N	0.122675	T	0.27027	0.0662	N	0.22421	0.69	0.28146	N	0.929582	B	0.25169	0.119	B	0.21151	0.033	T	0.16837	-1.0389	10	0.56958	D	0.05	-4.6282	7.9484	0.29999	0.2967:0.4578:0.2455:0.0	.	41	Q9Y584	TIM22_HUMAN	F	41	ENSP00000320236:L41F	ENSP00000320236:L41F	L	+	1	0	TIMM22	847253	0.986000	0.35501	1.000000	0.80357	0.940000	0.58332	1.512000	0.35812	0.569000	0.29329	0.485000	0.47835	CTC		0.647	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	NM_013337	
PRPF8	10594	broad.mit.edu	37	17	1584923	1584924	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:1584923_1584924delAG	ENST00000572621.1	-	5	979_980	c.714_715delCT	c.(712-717)ctctacfs	p.Y239fs	PRPF8_ENST00000304992.6_Frame_Shift_Del_p.Y239fs			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	239					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.Y239fs*4(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCCAGGCGGTAGAGAGTCGACA	0.47																																					p.238_239del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.714_715del	17						.																																			1531674	SO:0001589	frameshift_variant	10594	exon6			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.714_715delCT	17.37:g.1584927_1584928delAG	ENSP00000460348:p.Tyr239fs		1531673	NM_006445	O14547|O75965	Frame_Shift_Del	DEL	ENST00000572621.1	37	CCDS11010.1																																																																																				0.470	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		
GUCY2D	3000	broad.mit.edu	37	17	7915606	7915606	+	Missense_Mutation	SNP	G	G	A	rs567708710		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:7915606G>A	ENST00000254854.4	+	9	2044	c.1894G>A	c.(1894-1896)Gct>Act	p.A632T		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	632	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.A632T(1)		skin(1)	1		Prostate(122;0.157)				GGACCTCCTCGCTCAGAGAGA	0.622																																					p.A632T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1894A	17						.						64.0	65.0	65.0					17																	7915606		2203	4300	6503	7856331	SO:0001583	missense	3000	exon9			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1894G>A	17.37:g.7915606G>A	ENSP00000254854:p.Ala632Thr		7856331	NM_000180	Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	2.568	-0.300401	0.05532	.	.	ENSG00000132518	ENST00000254854	D	0.82433	-1.61	5.44	3.35	0.38373	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.415630	0.20658	N	0.088068	T	0.67730	0.2924	N	0.26130	0.795	0.09310	N	1	B	0.21071	0.051	B	0.18561	0.022	T	0.52837	-0.8522	10	0.33940	T	0.23	.	3.5752	0.07932	0.0899:0.2847:0.4664:0.1591	.	632	Q02846	GUC2D_HUMAN	T	632	ENSP00000254854:A632T	ENSP00000254854:A632T	A	+	1	0	GUCY2D	7856331	0.000000	0.05858	0.926000	0.36857	0.378000	0.30076	0.214000	0.17541	1.545000	0.49373	-0.133000	0.14855	GCT		0.622	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2		
GUCY2D	3000	broad.mit.edu	37	17	7917215	7917215	+	Missense_Mutation	SNP	C	C	T	rs200637525		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:7917215C>T	ENST00000254854.4	+	12	2431	c.2281C>T	c.(2281-2283)Cgg>Tgg	p.R761W		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	761	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.R761W(1)		skin(1)	1		Prostate(122;0.157)				GCAGAGGGTGCGGAGCCCCCC	0.622																																					p.R761W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2281T	17						.	C	TRP/ARG	0,4406		0,0,2203	74.0	77.0	76.0		2281	3.3	0.5	17		76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GUCY2D	NM_000180.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	761/1104	7917215	1,13005	2203	4300	6503	7857940	SO:0001583	missense	3000	exon12			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2281C>T	17.37:g.7917215C>T	ENSP00000254854:p.Arg761Trp		7857940	NM_000180	Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519992	0.64634	0.0	1.16E-4	ENSG00000132518	ENST00000254854	D	0.83506	-1.73	5.44	3.34	0.38264	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.898770	0.09283	N	0.823427	D	0.89972	0.6870	M	0.88310	2.945	0.09310	N	1	D	0.67145	0.996	P	0.55303	0.773	T	0.79502	-0.1777	10	0.72032	D	0.01	.	11.0092	0.47652	0.1282:0.6448:0.2271:0.0	.	761	Q02846	GUC2D_HUMAN	W	761	ENSP00000254854:R761W	ENSP00000254854:R761W	R	+	1	2	GUCY2D	7857940	0.000000	0.05858	0.522000	0.27862	0.975000	0.68041	0.388000	0.20735	1.510000	0.48803	0.655000	0.94253	CGG		0.622	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2		
GLP2R	9340	broad.mit.edu	37	17	9792936	9792936	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:9792936C>T	ENST00000262441.5	+	13	2089	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	GLP2R_ENST00000574745.1_Missense_Mutation_p.R346W	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	526					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.R526W(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	ACGCTGGCCCCGGGGCAGCAG	0.627																																					p.R526W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1576T	17						.						27.0	25.0	26.0					17																	9792936		2203	4300	6503	9733661	SO:0001583	missense	9340	exon13			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1576C>T	17.37:g.9792936C>T	ENSP00000262441:p.Arg526Trp		9733661	NM_004246	Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	7.367	0.625983	0.14257	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.57107	0.42	5.73	1.02	0.19986	.	0.217078	0.23600	N	0.046441	T	0.41719	0.1171	L	0.55990	1.75	0.23882	N	0.996578	B	0.15141	0.012	B	0.11329	0.006	T	0.40887	-0.9539	10	0.72032	D	0.01	.	5.0187	0.14350	0.3784:0.4473:0.0:0.1742	.	526	O95838	GLP2R_HUMAN	W	526	ENSP00000262441:R526W	ENSP00000262441:R526W	R	+	1	2	GLP2R	9733661	0.020000	0.18652	0.999000	0.59377	0.123000	0.20343	0.068000	0.14531	0.666000	0.31087	0.655000	0.94253	CGG		0.627	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4		
TBCD	6904	broad.mit.edu	37	17	80887119	80887119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr17:80887119C>T	ENST00000355528.4	+	31	2954	c.2824C>T	c.(2824-2826)Cga>Tga	p.R942*	TBCD_ENST00000539345.2_Nonsense_Mutation_p.R942*	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	942					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.R942*(2)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CGTGCCCCACCGAGGAGAACT	0.642																																					p.R942X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.C2824T	17						.						61.0	66.0	64.0					17																	80887119		2074	4216	6290	78480408	SO:0001587	stop_gained	6904	exon31			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2824C>T	17.37:g.80887119C>T	ENSP00000347719:p.Arg942*		78480408	NM_005993	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Nonsense_Mutation	SNP	ENST00000355528.4	37	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485111	0.96323	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	.	.	.	5.13	2.97	0.34412	.	0.076937	0.50627	D	0.000104	.	.	.	.	.	.	0.38567	D	0.94984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5401	0.50661	0.3712:0.6288:0.0:0.0	.	.	.	.	X	942;693	.	.	R	+	1	2	TBCD	78480408	1.000000	0.71417	0.909000	0.35828	0.012000	0.07955	0.774000	0.26675	1.129000	0.42072	0.655000	0.94253	CGA		0.642	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993	
TMPRSS15	5651	broad.mit.edu	37	21	19770613	19770613	+	Missense_Mutation	SNP	G	G	A	rs199751836		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr21:19770613G>A	ENST00000284885.3	-	2	212	c.179C>T	c.(178-180)gCg>gTg	p.A60V		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	60	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.A60V(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						TTTAAATGTCGCTCTGGCTTC	0.353																																					p.A60V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C179T	21						.						78.0	79.0	78.0					21																	19770613		2203	4300	6503	18692484	SO:0001583	missense	5651	exon2				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.179C>T	21.37:g.19770613G>A	ENSP00000284885:p.Ala60Val		18692484	NM_002772	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	24.8	4.567927	0.86439	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	T;T	0.37915	1.17;1.17	5.23	5.23	0.72850	SEA (3);	0.204191	0.40385	N	0.001101	T	0.18215	0.0437	N	0.08118	0	0.19775	N	0.99996	B	0.29270	0.24	B	0.24541	0.054	T	0.15093	-1.0449	9	.	.	.	.	11.9071	0.52719	0.0:0.8251:0.1749:0.0	.	60	P98073	ENTK_HUMAN	V	60;15	ENSP00000284885:A60V;ENSP00000398253:A15V	.	A	-	2	0	TMPRSS15	18692484	1.000000	0.71417	0.999000	0.59377	0.575000	0.36095	2.935000	0.48963	1.461000	0.47929	-0.132000	0.14878	GCG		0.353	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
TIAM1	7074	broad.mit.edu	37	21	32537376	32537376	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr21:32537376C>T	ENST00000286827.3	-	17	3365	c.2894G>A	c.(2893-2895)aGc>aAc	p.S965N	TIAM1_ENST00000541036.1_Missense_Mutation_p.S905N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	965					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S965N(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCTGCAAAGGCTGTGCCCTGT	0.542																																					p.S965N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2894A	21						.						61.0	58.0	59.0					21																	32537376		2203	4300	6503	31459247	SO:0001583	missense	7074	exon17				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2894G>A	21.37:g.32537376C>T	ENSP00000286827:p.Ser965Asn		31459247	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	7.312	0.615148	0.14129	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.41758	0.99;1.02	4.53	4.53	0.55603	.	1.186820	0.05631	N	0.581799	T	0.36826	0.0981	L	0.44542	1.39	0.23325	N	0.997907	B;B;B	0.28128	0.018;0.01;0.201	B;B;B	0.26770	0.021;0.009;0.073	T	0.17531	-1.0366	10	0.30854	T	0.27	.	7.8479	0.29437	0.1805:0.645:0.1745:0.0	.	905;905;965	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	N	965;806;905	ENSP00000286827:S965N;ENSP00000441570:S905N	ENSP00000286827:S965N	S	-	2	0	TIAM1	31459247	0.393000	0.25237	0.982000	0.44146	0.420000	0.31355	0.451000	0.21779	2.342000	0.79632	0.655000	0.94253	AGC		0.542	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
C2CD2	25966	broad.mit.edu	37	21	43327884	43327884	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr21:43327884G>A	ENST00000380486.3	-	9	1269	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	C2CD2_ENST00000329623.7_Missense_Mutation_p.A188V	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	343	C2.					cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.A343V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGTCGCCGTCGCCAGCAGACC	0.622																																					p.A188V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C563T	21						.						32.0	36.0	35.0					21																	43327884		2203	4300	6503	42200953	SO:0001583	missense	25966	exon8			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1028C>T	21.37:g.43327884G>A	ENSP00000369853:p.Ala343Val		42200953	NM_199050	Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368923	0.42003	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.71579	-0.58;-0.58	5.51	4.62	0.57501	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.120658	0.56097	D	0.000022	T	0.79381	0.4436	L	0.55990	1.75	0.29555	N	0.851037	D;D	0.89917	1.0;0.999	D;P	0.66351	0.943;0.904	T	0.77378	-0.2610	10	0.87932	D	0	-23.5782	13.7259	0.62759	0.0:0.3043:0.6957:0.0	.	188;343	Q6P6D1;Q9Y426	.;CU025_HUMAN	V	188;343	ENSP00000329302:A188V;ENSP00000369853:A343V	ENSP00000329302:A188V	A	-	2	0	C2CD2	42200953	0.998000	0.40836	0.180000	0.23079	0.042000	0.13812	3.090000	0.50191	1.288000	0.44600	0.650000	0.86243	GCG		0.622	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500	
CRYAA	1409	broad.mit.edu	37	21	44592183	44592183	+	Silent	SNP	C	C	T	rs374245405		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr21:44592183C>T	ENST00000291554.2	+	3	407	c.315C>T	c.(313-315)gaC>gaT	p.D105D	CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398133.1_Silent_p.D85D|CRYAA_ENST00000398132.1_Silent_p.D68D	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	105			D -> H (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)	p.D105D(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CTCTCCAGGACGACCACGGCT	0.677																																					p.D105D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C315T	21						.	T		3,4403	821.5+/-416.4	0,3,2200	62.0	53.0	56.0		315	-0.8	1.0	21		56	0,8600		0,0,4300	no	coding-synonymous	CRYAA	NM_000394.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		105/174	44592183	3,13003	2203	4300	6503	43465252	SO:0001819	synonymous_variant	1409	exon3				CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"""Heat shock proteins / HSPB"""	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.315C>T	21.37:g.44592183C>T			43465252	NM_000394	Q53X53	Silent	SNP	ENST00000291554.2	37	CCDS13695.1																																																																																				0.677	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1		
TRAPPC10	7109	broad.mit.edu	37	21	45483618	45483618	+	Silent	SNP	C	C	T	rs146263531		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr21:45483618C>T	ENST00000291574.4	+	7	1165	c.990C>T	c.(988-990)cgC>cgT	p.R330R		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	330					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.R330R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TGGCCCAGCGCGCCCTAGAGC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		18648	0.0		0.001	False		,,,				2504	0.0				p.R330R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C990T	21						.	C		5,4401	9.9+/-24.2	0,5,2198	85.0	83.0	84.0		990	-1.3	1.0	21	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRAPPC10	NM_003274.4		0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461		330/1260	45483618	6,13000	2203	4300	6503	44308046	SO:0001819	synonymous_variant	7109	exon7			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.990C>T	21.37:g.45483618C>T			44308046	NM_003274	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	CCDS13704.1																																																																																				0.557	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274	
UNKL	64718	broad.mit.edu	37	16	1453205	1453205	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:1453205C>T	ENST00000389221.4	-	3	427	c.428G>A	c.(427-429)gGc>gAc	p.G143D	UNKL_ENST00000397462.1_Missense_Mutation_p.G230D|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000301712.5_Missense_Mutation_p.G143D|UNKL_ENST00000508903.2_Missense_Mutation_p.G143D	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	143					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G143D(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GTCCAGGGGGCCGTGCGCGAA	0.627																																					p.G143D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G428A	16						.						168.0	113.0	132.0					16																	1453205		2199	4300	6499	1393206	SO:0001583	missense	64718	exon3			BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.428G>A	16.37:g.1453205C>T	ENSP00000373873:p.Gly143Asp		1393206	NM_001037125	B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	ENST00000389221.4	37	CCDS53981.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721840	0.89298	.	.	ENSG00000059145	ENST00000389221;ENST00000508903;ENST00000397462;ENST00000301712	T	0.75260	-0.92	3.81	3.81	0.43845	.	0.109124	0.64402	D	0.000007	D	0.85944	0.5815	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87998	0.2754	10	0.66056	D	0.02	.	13.5612	0.61790	0.0:1.0:0.0:0.0	.	143	Q9H9P5-5	.	D	143;143;230;143	ENSP00000373873:G143D	ENSP00000301712:G143D	G	-	2	0	UNKL	1393206	1.000000	0.71417	0.944000	0.38274	0.900000	0.52787	7.286000	0.78671	2.118000	0.64928	0.462000	0.41574	GGC		0.627	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125	
CLCN7	1186	broad.mit.edu	37	16	1505228	1505228	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:1505228C>T	ENST00000382745.4	-	12	1610	c.1005G>A	c.(1003-1005)acG>acA	p.T335T	CLCN7_ENST00000448525.1_Silent_p.T311T|LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000262318.8_Silent_p.T311T	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	335					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|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.T335T(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCAGGGTGAACGTGGAGATCA	0.577																																					p.T311T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G933A	16						.						157.0	142.0	147.0					16																	1505228		2199	4300	6499	1445229	SO:0001819	synonymous_variant	1186	exon11			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1005G>A	16.37:g.1505228C>T			1445229	NM_001114331	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	CCDS32361.1																																																																																				0.577	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287	
IFT140	9742	broad.mit.edu	37	16	1568241	1568241	+	Silent	SNP	G	G	A	rs111494974	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:1568241G>A	ENST00000426508.2	-	30	4521	c.4158C>T	c.(4156-4158)taC>taT	p.Y1386Y	IFT140_ENST00000361339.5_Silent_p.Y580Y	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1386					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.Y1386Y(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCTTCCGCACGTAGTGCTCCA	0.582																																					p.Y1386Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4158T	16						.	G		1,4397	2.1+/-5.4	0,1,2198	96.0	70.0	79.0		4158	1.6	0.2	16	dbSNP_132	79	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous	IFT140	NM_014714.3		0,2,6497	AA,AG,GG		0.0116,0.0227,0.0154		1386/1463	1568241	2,12996	2199	4300	6499	1508242	SO:0001819	synonymous_variant	9742	exon30			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.4158C>T	16.37:g.1568241G>A			1508242	NM_014714	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	CCDS10439.1																																																																																				0.582	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	
IFT140	9742	broad.mit.edu	37	16	1573848	1573848	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:1573848G>A	ENST00000426508.2	-	25	3614	c.3251C>T	c.(3250-3252)gCg>gTg	p.A1084V	IFT140_ENST00000361339.5_Missense_Mutation_p.A278V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1084					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.A1084E(1)|p.A1084V(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGCATGACCGCCCTGTCCAT	0.672																																					p.A1084V												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C3251T	16						.						75.0	57.0	63.0					16																	1573848		2199	4300	6499	1513849	SO:0001583	missense	9742	exon25			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3251C>T	16.37:g.1573848G>A	ENSP00000406012:p.Ala1084Val		1513849	NM_014714	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511808	0.85389	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.54866	0.55;0.55	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.79246	0.4413	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.991	T	0.82665	-0.0345	10	0.72032	D	0.01	.	19.8599	0.96779	0.0:0.0:1.0:0.0	.	1084;771	Q96RY7;B4DR58	IF140_HUMAN;.	V	1084;278;1084	ENSP00000354895:A278V;ENSP00000406012:A1084V	ENSP00000354895:A278V	A	-	2	0	IFT140	1513849	1.000000	0.71417	0.960000	0.40013	0.257000	0.26127	9.787000	0.99055	2.710000	0.92621	0.655000	0.94253	GCG		0.672	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	
ABCC6	368	broad.mit.edu	37	16	16248815	16248815	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:16248815G>A	ENST00000205557.7	-	28	3985	c.3956C>T	c.(3955-3957)gCt>gTt	p.A1319V		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1319	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.A1319V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CCCACCCTCAGCTGCCTCCTG	0.682																																					p.A1319V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3956T	16						.						21.0	19.0	19.0					16																	16248815		2197	4295	6492	16156316	SO:0001583	missense	368	exon28			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3956C>T	16.37:g.16248815G>A	ENSP00000205557:p.Ala1319Val		16156316	NM_001171	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231190	0.58777	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.94000	-3.33	4.53	3.55	0.40652	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.300521	0.23032	U	0.052730	D	0.91938	0.7447	N	0.12746	0.255	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66979	0.948;0.948	D	0.92172	0.5744	10	0.66056	D	0.02	.	12.6145	0.56569	0.0838:0.0:0.9162:0.0	.	1319;1319	O95255;A8Y988	MRP6_HUMAN;.	V	1319;257	ENSP00000205557:A1319V	ENSP00000205557:A1319V	A	-	2	0	ABCC6	16156316	1.000000	0.71417	0.072000	0.20136	0.266000	0.26442	7.952000	0.87827	0.868000	0.35678	0.465000	0.42564	GCT		0.682	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2		
MAPK8IP3	23162	broad.mit.edu	37	16	1812463	1812463	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:1812463C>T	ENST00000250894.4	+	14	1805	c.1648C>T	c.(1648-1650)Cgg>Tgg	p.R550W	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R544W	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	550					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.R550W(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGAGGCTGTGCGGTGGACTGA	0.672																																					p.R544W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1630T	16						.						56.0	69.0	64.0					16																	1812463		2169	4274	6443	1752464	SO:0001583	missense	23162	exon13			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1648C>T	16.37:g.1812463C>T	ENSP00000250894:p.Arg550Trp		1752464	NM_001040439	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485164	0.84854	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.18960	2.18;2.18	5.72	-2.13	0.07144	.	0.055013	0.64402	D	0.000001	T	0.44932	0.1317	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	T	0.57476	-0.7805	10	0.87932	D	0	-34.2967	17.0589	0.86541	0.6741:0.3259:0.0:0.0	.	551;544;550	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	W	550;544	ENSP00000250894:R550W;ENSP00000348290:R544W	ENSP00000250894:R550W	R	+	1	2	MAPK8IP3	1752464	0.991000	0.36638	0.997000	0.53966	0.996000	0.88848	1.113000	0.31184	-0.149000	0.11215	0.655000	0.94253	CGG		0.672	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439	
ABCC6	368	broad.mit.edu	37	16	16291966	16291966	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:16291966A>G	ENST00000205557.7	-	10	1279	c.1250T>C	c.(1249-1251)gTg>gCg	p.V417A	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	417	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		V -> M. {ECO:0000269|PubMed:19339160}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.V417A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CAGCCGCTGCACGTCCACGGA	0.622																																					p.V417A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1250C	16						.						72.0	50.0	57.0					16																	16291966		2197	4299	6496	16199467	SO:0001583	missense	368	exon10			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1250T>C	16.37:g.16291966A>G	ENSP00000205557:p.Val417Ala		16199467	NM_001171	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	A	1.179	-0.638665	0.03557	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.91011	-2.77;-2.77	4.4	4.4	0.53042	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.168636	0.26948	U	0.021698	D	0.82609	0.5074	N	0.19112	0.55	0.80722	D	1	B;P	0.48294	0.295;0.908	B;P	0.46253	0.132;0.509	T	0.81102	-0.1085	10	0.02654	T	1	.	11.4469	0.50129	1.0:0.0:0.0:0.0	.	429;417	F5GWQ0;O95255	.;MRP6_HUMAN	A	417;417;429	ENSP00000205557:V417A;ENSP00000405002:V417A	ENSP00000205557:V417A	V	-	2	0	ABCC6	16199467	0.995000	0.38212	0.986000	0.45419	0.213000	0.24496	4.975000	0.63777	1.746000	0.51805	0.459000	0.35465	GTG		0.622	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2		
SMG1	23049	broad.mit.edu	37	16	18869532	18869532	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:18869532C>T	ENST00000446231.2	-	29	4606	c.4194G>A	c.(4192-4194)agG>agA	p.R1398R	SMG1_ENST00000389467.3_Silent_p.R1398R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1398	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1394R(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACATAGTATACCTTAATGCCT	0.353																																					p.R1398R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4194A	16						.						43.0	40.0	41.0					16																	18869532		1825	4073	5898	18777033	SO:0001819	synonymous_variant	23049	exon29			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4194G>A	16.37:g.18869532C>T			18777033	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	CCDS45430.1																																																																																				0.353	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
TSC2	7249	broad.mit.edu	37	16	2100432	2100432	+	Missense_Mutation	SNP	G	G	A	rs397515042|rs397514949		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:2100432G>A	ENST00000219476.3	+	3	800	c.170G>A	c.(169-171)cGc>cAc	p.R57H	NTHL1_ENST00000219066.1_5'Flank|TSC2_ENST00000568454.1_Missense_Mutation_p.R68H|TSC2_ENST00000382538.6_Missense_Mutation_p.R8H|TSC2_ENST00000401874.2_Missense_Mutation_p.R57H|TSC2_ENST00000439673.2_Missense_Mutation_p.R57H|TSC2_ENST00000350773.4_Missense_Mutation_p.R57H|TSC2_ENST00000353929.4_Missense_Mutation_p.R57H	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	57	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.R57H(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTCAACAATCGCATCCGGATG	0.468			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																												p.R57H		yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G170A	16						.						90.0	87.0	88.0					16																	2100432		2198	4300	6498	2040433	SO:0001583	missense	7249	exon3	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.170G>A	16.37:g.2100432G>A	ENSP00000219476:p.Arg57His		2040433	NM_001114382	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802152	0.90538	.	.	ENSG00000103197	ENST00000219476;ENST00000432909;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773;ENST00000445113	D;D;D;T;D;D	0.89196	-2.48;-2.48;-2.48;-0.14;-2.48;-2.48	4.78	4.78	0.61160	Armadillo-type fold (1);Tuberin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94427	0.8207	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.917;1.0;0.998;0.996	D	0.95241	0.8351	10	0.87932	D	0	-21.1781	17.808	0.88607	0.0:0.0:1.0:0.0	.	8;57;57;57;57;57	B4DIL8;P49815-6;B7Z2B8;P49815-4;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	H	57;8;57;57;57;8;57;68	ENSP00000219476:R57H;ENSP00000384468:R57H;ENSP00000248099:R57H;ENSP00000399232:R57H;ENSP00000371978:R8H;ENSP00000344383:R57H	ENSP00000219476:R57H	R	+	2	0	TSC2	2040433	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	8.804000	0.91921	2.195000	0.70347	0.407000	0.27541	CGC		0.468	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	
GPRC5B	51704	broad.mit.edu	37	16	19873271	19873271	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:19873271T>C	ENST00000300571.2	-	3	1246	c.1055A>G	c.(1054-1056)aAc>aGc	p.N352S	GPRC5B_ENST00000537135.1_Missense_Mutation_p.N378S|GPRC5B_ENST00000569479.1_Missense_Mutation_p.N352S|GPRC5B_ENST00000569847.1_Missense_Mutation_p.N352S|GPRC5B_ENST00000535671.1_Missense_Mutation_p.N352S	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	352					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.N352S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAAGCTGCCGTTGGGAAATCC	0.517																																					p.N352S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1055G	16						.						59.0	54.0	56.0					16																	19873271		2197	4300	6497	19780772	SO:0001583	missense	51704	exon3			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.1055A>G	16.37:g.19873271T>C	ENSP00000300571:p.Asn352Ser		19780772	NM_016235	D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.821700	0.32237	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.25085	1.84;1.83;1.82	5.38	5.38	0.77491	.	0.465288	0.24375	N	0.039073	T	0.19127	0.0459	L	0.33485	1.01	0.39712	D	0.971342	P;P	0.41313	0.745;0.612	B;B	0.34931	0.192;0.138	T	0.05818	-1.0862	9	.	.	.	.	14.5802	0.68282	0.0:0.0:0.0:1.0	.	378;352	B7Z831;Q9NZH0	.;GPC5B_HUMAN	S	352;352;201;378	ENSP00000300571:N352S;ENSP00000442858:N352S;ENSP00000441775:N378S	.	N	-	2	0	GPRC5B	19780772	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	4.824000	0.62701	2.038000	0.60285	0.533000	0.62120	AAC		0.517	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1		
OTOA	146183	broad.mit.edu	37	16	21737882	21737882	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:21737882T>C	ENST00000286149.4	+	18	1962	c.1961T>C	c.(1960-1962)gTg>gCg	p.V654A	OTOA_ENST00000388957.3_Missense_Mutation_p.V316A|OTOA_ENST00000388958.3_Missense_Mutation_p.V640A|OTOA_ENST00000388956.4_Missense_Mutation_p.V561A			Q7RTW8	OTOAN_HUMAN	otoancorin	654					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.V640A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCCCAGTGTGTGCCCTTTCTG	0.547																																					p.V640A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1919C	16						.						119.0	115.0	116.0					16																	21737882		2198	4300	6498	21645383	SO:0001583	missense	146183	exon18			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1961T>C	16.37:g.21737882T>C	ENSP00000286149:p.Val654Ala		21645383	NM_144672	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	T	10.47	1.357974	0.24598	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957;ENST00000338456	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.06	0.273	0.15650	.	0.476160	0.18816	N	0.130376	T	0.73853	0.3640	L	0.59436	1.845	0.28973	N	0.889092	B;B;B;B	0.18310	0.027;0.027;0.012;0.027	B;B;B;B	0.17722	0.018;0.019;0.009;0.012	T	0.57510	-0.7799	10	0.11794	T	0.64	-6.8404	7.507	0.27551	0.0:0.375:0.0:0.625	.	654;561;316;640	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	A	640;654;561;316;49	ENSP00000373610:V640A;ENSP00000286149:V654A;ENSP00000373608:V561A;ENSP00000373609:V316A	ENSP00000286149:V654A	V	+	2	0	OTOA	21645383	0.994000	0.37717	0.971000	0.41717	0.935000	0.57460	0.270000	0.18607	-0.155000	0.11098	0.533000	0.62120	GTG		0.547	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
VWA3A	146177	broad.mit.edu	37	16	22163838	22163838	+	Silent	SNP	G	G	A	rs369659498		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:22163838G>A	ENST00000389398.5	+	31	3384	c.3288G>A	c.(3286-3288)gcG>gcA	p.A1096A	VWA3A_ENST00000389397.4_Silent_p.A198A|VWA3A_ENST00000563755.1_Silent_p.A198A	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1096	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)		p.A292A(1)|p.A1096A(1)|p.A198A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCAGAGCGGCGGTTGAGTTCC	0.587																																					p.A1096A												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G3288A	16						.	G		0,4046		0,0,2023	33.0	36.0	35.0		3288	-3.4	0.0	16		35	2,8372		0,2,4185	no	coding-synonymous	VWA3A	NM_173615.3		0,2,6208	AA,AG,GG		0.0239,0.0,0.0161		1096/1185	22163838	2,12418	2023	4187	6210	22071339	SO:0001819	synonymous_variant	146177	exon31			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3288G>A	16.37:g.22163838G>A			22071339	NM_173615	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Silent	SNP	ENST00000389398.5	37	CCDS45441.1																																																																																				0.587	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1		
ABCA3	21	broad.mit.edu	37	16	2347505	2347505	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:2347505G>A	ENST00000301732.5	-	17	2788	c.2088C>T	c.(2086-2088)gaC>gaT	p.D696D	ABCA3_ENST00000382381.3_Silent_p.D638D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	696	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|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)	p.D696D(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TGGAGATGGCGTCCATGCCCG	0.637																																					p.D696D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2088T	16						.						130.0	100.0	110.0					16																	2347505		2198	4300	6498	2287506	SO:0001819	synonymous_variant	21	exon17			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2088C>T	16.37:g.2347505G>A			2287506	NM_001089	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	CCDS10466.1																																																																																				0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	
POLR3E	55718	broad.mit.edu	37	16	22337150	22337150	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:22337150G>A	ENST00000299853.5	+	18	1584	c.1417G>A	c.(1417-1419)Gcg>Acg	p.A473T	POLR3E_ENST00000418581.2_Missense_Mutation_p.A437T|POLR3E_ENST00000564209.1_Missense_Mutation_p.A473T|POLR3E_ENST00000359210.4_Missense_Mutation_p.A473T	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	473					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|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)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.A473T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GCAGAACCACGCGTTGCTGGA	0.701																																					p.A473T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1417A	16						.						25.0	24.0	24.0					16																	22337150		2196	4297	6493	22244651	SO:0001583	missense	55718	exon18			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1417G>A	16.37:g.22337150G>A	ENSP00000299853:p.Ala473Thr		22244651	NM_018119	B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567604	0.28003	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.43294	0.95;0.95;0.95	5.27	0.271	0.15640	.	0.636877	0.16035	N	0.232686	T	0.35828	0.0945	L	0.59436	1.845	0.09310	N	1	B;B;B;B;B;B	0.16603	0.011;0.001;0.001;0.002;0.001;0.018	B;B;B;B;B;B	0.14023	0.004;0.002;0.003;0.002;0.002;0.01	T	0.37291	-0.9712	10	0.87932	D	0	-4.0025	8.0988	0.30844	0.2411:0.123:0.6359:0.0	.	417;437;473;473;473;473	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	T	473;473;437	ENSP00000299853:A473T;ENSP00000352140:A473T;ENSP00000399254:A437T	ENSP00000299853:A473T	A	+	1	0	POLR3E	22244651	0.000000	0.05858	0.007000	0.13788	0.949000	0.60115	0.253000	0.18296	0.164000	0.19529	0.462000	0.41574	GCG		0.701	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119	
USP31	57478	broad.mit.edu	37	16	23085170	23085170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:23085170C>T	ENST00000219689.7	-	14	2207	c.2208G>A	c.(2206-2208)tgG>tgA	p.W736*	USP31_ENST00000567975.1_5'Flank	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	366	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.W736*(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGAAGCAGTACCAGAGGCCGT	0.582																																					p.W736X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2208A	16						.						69.0	60.0	63.0					16																	23085170		2197	4300	6497	22992671	SO:0001587	stop_gained	57478	exon14			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2208G>A	16.37:g.23085170C>T	ENSP00000219689:p.Trp736*		22992671	NM_020718	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Nonsense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	40	8.345304	0.98769	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2368	19.2867	0.94077	0.0:1.0:0.0:0.0	.	.	.	.	X	736;39	.	ENSP00000219689:W736X	W	-	3	0	USP31	22992671	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.453000	0.80700	2.793000	0.96121	0.655000	0.94253	TGG		0.582	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718	
IL21R	50615	broad.mit.edu	37	16	27460065	27460065	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:27460065G>A	ENST00000337929.3	+	9	1551	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S	IL21R_ENST00000395754.4_Missense_Mutation_p.G360S|IL21R_ENST00000564089.1_Missense_Mutation_p.G360S|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Missense_Mutation_p.G360S	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	360					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.G360S(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GAACTCGGGGGGCTCAGCTTA	0.617			T	BCL6	NHL																																p.G382S			Dom	yes		16	16p11	50615	interleukin 21 receptor		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1144A	16						.						58.0	57.0	57.0					16																	27460065		2197	4300	6497	27367566	SO:0001583	missense	50615	exon10			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1078G>A	16.37:g.27460065G>A	ENSP00000338010:p.Gly360Ser		27367566	NM_181079	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	8.424	0.847169	0.17034	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.35048	1.33;1.33;1.33	5.19	0.659	0.17861	.	1.518340	0.03464	N	0.212721	T	0.23532	0.0569	N	0.25144	0.715	0.09310	N	1	B	0.13594	0.008	B	0.17722	0.019	T	0.16571	-1.0398	10	0.08179	T	0.78	-9.2395	7.0854	0.25254	0.4391:0.0:0.5609:0.0	.	360	Q9HBE5	IL21R_HUMAN	S	360	ENSP00000338010:G360S;ENSP00000379104:G360S;ENSP00000379103:G360S	ENSP00000338010:G360S	G	+	1	0	IL21R	27367566	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.195000	0.09546	-0.109000	0.12044	0.561000	0.74099	GGC		0.617	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078	
KIAA0556	23247	broad.mit.edu	37	16	27720169	27720169	+	Silent	SNP	G	G	A	rs533574674	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:27720169G>A	ENST00000261588.4	+	13	1552	c.1533G>A	c.(1531-1533)tcG>tcA	p.S511S	CTD-2049O4.1_ENST00000564893.1_RNA|CTD-2049O4.1_ENST00000563052.1_RNA|CTD-2049O4.1_ENST00000568831.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	511						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S511S(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TTTATGTGTCGCCCCACGATG	0.557													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18123	0.0		0.0	False		,,,				2504	0.0				p.S511S												.	.	4	Substitution - coding silent(4)	large_intestine(2)|lung(2)	c.G1533A	16						.						91.0	80.0	84.0					16																	27720169		2197	4300	6497	27627670	SO:0001819	synonymous_variant	23247	exon13			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1533G>A	16.37:g.27720169G>A			27627670	NM_015202	A7E2C2	Silent	SNP	ENST00000261588.4	37	CCDS32415.1																																																																																				0.557	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
XPO6	23214	broad.mit.edu	37	16	28109919	28109919	+	Silent	SNP	G	G	A	rs552706253		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:28109919G>A	ENST00000304658.5	-	24	3818	c.3318C>T	c.(3316-3318)aaC>aaT	p.N1106N	XPO6_ENST00000565698.1_Silent_p.N1092N	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	1106					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.N1106N(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AGCGCAGGTCGTTGACCAGCC	0.612																																					p.N1106N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3318T	16						.						71.0	86.0	81.0					16																	28109919		2150	4266	6416	28017420	SO:0001819	synonymous_variant	23214	exon24			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.3318C>T	16.37:g.28109919G>A			28017420	NM_015171	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	CCDS42135.1																																																																																				0.612	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195	
LAT	27040	broad.mit.edu	37	16	28997749	28997749	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:28997749C>T	ENST00000360872.5	+	5	370	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	LAT_ENST00000395456.2_Missense_Mutation_p.R98W|LAT_ENST00000454369.2_Missense_Mutation_p.R97W|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000354453.4_Splice_Site|RP11-264B17.5_ENST00000561471.1_RNA|LAT_ENST00000395461.3_Missense_Mutation_p.R134W|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000564277.1_Missense_Mutation_p.R97W|LAT_ENST00000566177.1_Missense_Mutation_p.R97W			O43561	LAT_HUMAN	linker for activation of T cells	98					blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)	p.R98W(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				GCCATCTTCCCGGCGGGATTC	0.647																																					p.R134W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C400T	16						.						35.0	43.0	40.0					16																	28997749		2194	4298	6492	28905250	SO:0001583	missense	27040	exon6			AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"""linker for activation of T cells, transmembrane adaptor"""	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.292C>T	16.37:g.28997749C>T	ENSP00000354119:p.Arg98Trp		28905250	NM_001014989	B7WPI0|C7C5T6|G5E9K3|O43919	Missense_Mutation	SNP	ENST00000360872.5	37	CCDS10647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.386|3.386	-0.125309|-0.125309	0.06795|0.06795	.|.	.|.	ENSG00000213658|ENSG00000213658	ENST00000354453|ENST00000395461;ENST00000395456;ENST00000454369;ENST00000360872	.|.	.|.	.|.	4.85|4.85	2.82|2.82	0.32997|0.32997	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64494	.|0.2603	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;0.999	.|D;D;D;D;P	.|0.76071	.|0.987;0.915;0.949;0.987;0.83	.|T	.|0.64206	.|-0.6462	.|8	.|0.87932	.|D	.|0	.|-3.1856	12.5872|12.5872	0.56424|0.56424	0.2972:0.7028:0.0:0.0|0.2972:0.7028:0.0:0.0	.|.	.|97;98;134;98;97	.|C7C5T6;O43561-2;B7WPI0;O43561;G5E9K3	.|.;.;.;LAT_HUMAN;.	.|W	-1|134;98;97;98	.|.	.|ENSP00000354119:R98W	.|R	+|+	.|1	.|2	LAT|LAT	28905250|28905250	0.487000|0.487000	0.25988|0.25988	0.978000|0.978000	0.43139|0.43139	0.107000|0.107000	0.19398|0.19398	0.876000|0.876000	0.28092|0.28092	0.175000|0.175000	0.19841|0.19841	-2.048000|-2.048000	0.00412|0.00412	.|CGG		0.647	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2		
SEZ6L2	26470	broad.mit.edu	37	16	29897009	29897009	+	Missense_Mutation	SNP	C	C	T	rs547134098		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:29897009C>T	ENST00000308713.5	-	8	1797	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.D354N|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.D310N|SEZ6L2_ENST00000562159.1_5'Flank|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.D380N	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	424	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.D424N(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						TCGGGGACATCGTCCATGTCC	0.592													c|||	1	0.000199681	0.0	0.0	5008	,	,		17068	0.001		0.0	False		,,,				2504	0.0				p.D310N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G928A	16						.						72.0	66.0	68.0					16																	29897009		2197	4300	6497	29804510	SO:0001583	missense	26470	exon6			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.1270G>A	16.37:g.29897009C>T	ENSP00000312550:p.Asp424Asn		29804510	NM_001114100	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	c	26.9	4.777729	0.90195	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.85	5.85	0.93711	CUB (4);	0.000000	0.56097	D	0.000026	T	0.51398	0.1672	L	0.41710	1.295	0.52501	D	0.999952	P;D;D;D;D;D	0.61080	0.744;0.981;0.981;0.989;0.981;0.989	B;P;P;P;P;P	0.53035	0.115;0.468;0.524;0.668;0.468;0.716	T	0.30909	-0.9962	10	0.22109	T	0.4	.	17.1439	0.86761	0.0:1.0:0.0:0.0	.	380;424;310;354;424;354	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	N	354;424;310;380	ENSP00000310206:D354N;ENSP00000312550:D424N;ENSP00000319215:D310N;ENSP00000439412:D380N	ENSP00000312550:D424N	D	-	1	0	SEZ6L2	29804510	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.730000	0.62015	2.785000	0.95823	0.645000	0.84053	GAT		0.592	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
TAOK2	9344	broad.mit.edu	37	16	29993015	29993015	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:29993015C>T	ENST00000308893.4	+	9	1732	c.689C>T	c.(688-690)gCg>gTg	p.A230V	TAOK2_ENST00000543033.1_Missense_Mutation_p.A230V|TAOK2_ENST00000279394.3_Missense_Mutation_p.A230V|TAOK2_ENST00000416441.2_Missense_Mutation_p.A57V	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.A230V(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AACATGAATGCGATGAGTGCC	0.522																																					p.A230V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C689T	16						.						165.0	141.0	149.0					16																	29993015		2197	4300	6497	29900516	SO:0001583	missense	9344	exon9			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.689C>T	16.37:g.29993015C>T	ENSP00000310094:p.Ala230Val		29900516	NM_004783	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332234	0.95733	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	D;D;D	0.85339	-1.97;-1.97;-1.97	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85191	0.5640	N	0.11427	0.14	0.80722	D	1	D;D;P;P;P	0.89917	0.986;1.0;0.653;0.834;0.931	B;D;B;B;B	0.73708	0.235;0.981;0.076;0.228;0.235	D	0.84401	0.0560	9	.	.	.	.	19.0726	0.93145	0.0:1.0:0.0:0.0	.	414;57;230;230;230	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	V	230	ENSP00000310094:A230V;ENSP00000440336:A230V;ENSP00000279394:A230V	.	A	+	2	0	TAOK2	29900516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.809000	0.96659	0.555000	0.69702	GCG		0.522	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151	
ZNF768	79724	broad.mit.edu	37	16	30537159	30537159	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:30537159G>A	ENST00000380412.5	-	2	477	c.302C>T	c.(301-303)gCa>gTa	p.A101V	ZNF768_ENST00000562803.1_Missense_Mutation_p.A70V	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	101	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A101V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCTTCTGGGTGCAAACTCAGG	0.582																																					p.A101V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C302T	16						.						34.0	41.0	39.0					16																	30537159		2164	4283	6447	30444660	SO:0001583	missense	79724	exon2			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.302C>T	16.37:g.30537159G>A	ENSP00000369777:p.Ala101Val		30444660	NM_024671	Q569L7|Q96CX4	Missense_Mutation	SNP	ENST00000380412.5	37	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113674	0.56398	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.06933	3.24	4.23	2.19	0.27852	.	0.000000	0.47093	D	0.000253	T	0.04137	0.0115	N	0.08118	0	0.28669	N	0.905747	B	0.15930	0.015	B	0.17098	0.017	T	0.33954	-0.9848	10	0.30854	T	0.27	-6.5435	8.7478	0.34598	0.0:0.144:0.5605:0.2955	.	101	Q9H5H4	ZN768_HUMAN	V	101;70	ENSP00000369777:A101V	ENSP00000369777:A101V	A	-	2	0	ZNF768	30444660	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.416000	0.52707	0.682000	0.31407	0.561000	0.74099	GCA		0.582	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671	
ZNF668	79759	broad.mit.edu	37	16	31073319	31073319	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:31073319G>A	ENST00000538906.1	-	3	1714	c.930C>T	c.(928-930)tgC>tgT	p.C310C	ZNF668_ENST00000417110.2_Silent_p.S169S|ZNF668_ENST00000426488.2_Silent_p.C333C|ZNF668_ENST00000535577.1_Silent_p.C310C|ZNF668_ENST00000300849.4_Silent_p.C310C|ZNF668_ENST00000394983.2_Silent_p.C310C|ZNF668_ENST00000539836.3_Silent_p.C333C|ZNF668_ENST00000564456.1_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	310					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.C310C(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGCACTTCTCGCAGTGGTATG	0.662																																					p.C333C	Colon(181;1111 1980 5060 10512 25785)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C999T	16						.						30.0	28.0	29.0					16																	31073319		2194	4293	6487	30980820	SO:0001819	synonymous_variant	79759	exon4				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.930C>T	16.37:g.31073319G>A			30980820	NM_001172669	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	CCDS10701.1																																																																																				0.662	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706	
BCKDK	10295	broad.mit.edu	37	16	31120887	31120887	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:31120887G>A	ENST00000394951.1	+	4	874	c.251G>A	c.(250-252)gGc>gAc	p.G84D	BCKDK_ENST00000394950.3_Missense_Mutation_p.G84D|BCKDK_ENST00000219794.6_Missense_Mutation_p.G84D|BCKDK_ENST00000287507.3_Missense_Mutation_p.G84D|AC135050.1_ENST00000517000.2_RNA			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	84					branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.G84D(2)		breast(1)|stomach(1)	2						TCTCAGGACGGCAGCCACCTT	0.592																																					p.G84D												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G251A	16						.						59.0	55.0	57.0					16																	31120887		2197	4300	6497	31028388	SO:0001583	missense	10295	exon3			AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.251G>A	16.37:g.31120887G>A	ENSP00000378405:p.Gly84Asp		31028388	NM_001122957	A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265827	0.80358	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.54	5.54	0.83059	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	L	0.31420	0.93	0.80722	D	1	D;D	0.56746	0.977;0.977	P;P	0.55871	0.786;0.666	T	0.02751	-1.1115	10	0.25106	T	0.35	-21.05	18.2514	0.90005	0.0:0.0:1.0:0.0	.	84;84	Q96G95;O14874	.;BCKD_HUMAN	D	84	ENSP00000378405:G84D;ENSP00000219794:G84D;ENSP00000378404:G84D;ENSP00000287507:G84D	ENSP00000219794:G84D	G	+	2	0	BCKDK	31028388	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.232000	0.89796	2.597000	0.87782	0.655000	0.94253	GGC		0.592	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881	
PRSS36	146547	broad.mit.edu	37	16	31151647	31151647	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:31151647G>A	ENST00000268281.4	-	14	2315	c.2257C>T	c.(2257-2259)Ctg>Ttg	p.L753L	PRSS36_ENST00000569305.1_Silent_p.L748L|PRSS36_ENST00000418068.2_Intron	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	753	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)	p.L753L(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TCTGCATACAGGACACAGAGG	0.597																																					p.L753L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2257T	16						.						67.0	64.0	65.0					16																	31151647		2197	4300	6497	31059148	SO:0001819	synonymous_variant	146547	exon14			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2257C>T	16.37:g.31151647G>A			31059148	NM_173502	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Silent	SNP	ENST00000268281.4	37	CCDS32436.1																																																																																				0.597	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502	
TMEM8A	58986	broad.mit.edu	37	16	426265	426265	+	Silent	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:426265C>A	ENST00000431232.2	-	6	1255	c.1095G>T	c.(1093-1095)tcG>tcT	p.S365S	TMEM8A_ENST00000250930.3_Silent_p.S172S|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	365					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)		p.S365S(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GGAAGTGCACCGACACCACGT	0.672																																					p.S365S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1095T	16						.						100.0	78.0	85.0					16																	426265		2201	4300	6501	366266	SO:0001819	synonymous_variant	58986	exon6			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1095G>T	16.37:g.426265C>A			366266	NM_021259	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	CCDS10407.1																																																																																				0.672	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259	
CREBBP	1387	broad.mit.edu	37	16	3778018	3778018	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:3778018G>A	ENST00000262367.5	-	31	7839	c.7030C>T	c.(7030-7032)Cgg>Tgg	p.R2344W	CREBBP_ENST00000382070.3_Missense_Mutation_p.R2306W	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2344					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R2344W(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTGGAGACCGCACCTGGTTA	0.652			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.R2344W			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7030T	16						.						87.0	85.0	86.0					16																	3778018		2197	4300	6497	3718019	SO:0001583	missense	1387	exon31			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.7030C>T	16.37:g.3778018G>A	ENSP00000262367:p.Arg2344Trp		3718019	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	10.65	1.410180	0.25465	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.86432	-2.12;-2.06	5.35	4.39	0.52855	.	0.249697	0.35067	N	0.003479	D	0.87309	0.6145	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.58970	0.719;0.849	D	0.88682	0.3203	10	0.62326	D	0.03	-13.798	14.8448	0.70251	0.0:0.0:0.8552:0.1448	.	2374;2344	Q4LE28;Q92793	.;CBP_HUMAN	W	2344;2374;2306;879	ENSP00000262367:R2344W;ENSP00000371502:R2306W	ENSP00000262367:R2344W	R	-	1	2	CREBBP	3718019	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.584000	0.74057	1.369000	0.46134	0.655000	0.94253	CGG		0.652	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
CREBBP	1387	broad.mit.edu	37	16	3820703	3820703	+	Silent	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:3820703A>G	ENST00000262367.5	-	14	3557	c.2748T>C	c.(2746-2748)ccT>ccC	p.P916P	CREBBP_ENST00000382070.3_Silent_p.P878P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	916					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P916P(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCTGGACTGTAGGGGTGCTCT	0.647			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.P916P			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2748C	16						.						64.0	69.0	67.0					16																	3820703		2197	4300	6497	3760704	SO:0001819	synonymous_variant	1387	exon14			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2748T>C	16.37:g.3820703A>G			3760704	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	CCDS10509.1																																																																																				0.647	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
CREBBP	1387	broad.mit.edu	37	16	3828111	3828111	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:3828111G>A	ENST00000262367.5	-	10	2823	c.2014C>T	c.(2014-2016)Cgt>Tgt	p.R672C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R634C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	672					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R672C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTATGTAAACGCGACCTCCGT	0.433			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.R672C			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2014T	16						.						117.0	135.0	129.0					16																	3828111		2197	4300	6497	3768112	SO:0001583	missense	1387	exon10			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2014C>T	16.37:g.3828111G>A	ENSP00000262367:p.Arg672Cys		3768112	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665632	0.67700	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.87571	-2.27;-2.19	5.73	5.73	0.89815	Coactivator CBP, KIX (1);	0.000000	0.85682	D	0.000000	D	0.93462	0.7914	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.96;1.0	D	0.93310	0.6684	10	0.87932	D	0	-12.1168	20.2786	0.98501	0.0:0.0:1.0:0.0	.	702;672	Q4LE28;Q92793	.;CBP_HUMAN	C	672;702;634	ENSP00000262367:R672C;ENSP00000371502:R634C	ENSP00000262367:R672C	R	-	1	0	CREBBP	3768112	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.840000	0.86819	2.868000	0.98415	0.557000	0.71058	CGT		0.433	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
DNAJA3	9093	broad.mit.edu	37	16	4492299	4492299	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:4492299G>A	ENST00000262375.6	+	5	738	c.661G>A	c.(661-663)Gca>Aca	p.A221T	DNAJA3_ENST00000431375.2_Missense_Mutation_p.A68T|DNAJA3_ENST00000355296.4_Missense_Mutation_p.A221T	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	221					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)	p.A221T(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CAATCAAGCTGCAAAGGGGGT	0.517																																					p.A221T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G661A	16						.						112.0	103.0	106.0					16																	4492299		2197	4300	6497	4432300	SO:0001583	missense	9093	exon5			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"""Heat shock proteins / DNAJ (HSP40)"""	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.661G>A	16.37:g.4492299G>A	ENSP00000262375:p.Ala221Thr		4432300	NM_001135110	B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	ENST00000262375.6	37	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995188	0.93167	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.66280	-0.2;-0.19;0.77	5.43	4.46	0.54185	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.79741	0.4498	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	0.991;1.0;0.999	P;D;D	0.74023	0.873;0.982;0.919	T	0.82678	-0.0338	10	0.66056	D	0.02	-17.128	13.681	0.62484	0.0758:0.0:0.9242:0.0	.	68;221;221	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	T	221;221;68	ENSP00000262375:A221T;ENSP00000347445:A221T;ENSP00000393970:A68T	ENSP00000262375:A221T	A	+	1	0	DNAJA3	4432300	1.000000	0.71417	0.990000	0.47175	0.758000	0.43043	9.749000	0.98871	2.549000	0.85964	0.467000	0.42956	GCA		0.517	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1		
ITGAM	3684	broad.mit.edu	37	16	31308909	31308909	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:31308909C>T	ENST00000287497.8	+	13	1506	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	ITGAM_ENST00000544665.3_Silent_p.I477I			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	477					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.I477I(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGGTCCTCATCGGGGCCCCCC	0.667																																					p.I477I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1431T	16						.						73.0	82.0	79.0					16																	31308909		2192	4296	6488	31216410	SO:0001819	synonymous_variant	3684	exon13			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1431C>T	16.37:g.31308909C>T			31216410	NM_000632	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1																																																																																				0.667	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
ITFG1	81533	broad.mit.edu	37	16	47196467	47196467	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:47196467C>T	ENST00000320640.6	-	15	1790	c.1562G>A	c.(1561-1563)cGt>cAt	p.R521H	ITFG1_ENST00000544001.2_Missense_Mutation_p.R408H|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	521						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R521H(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TCCAGATGGACGGGGAATACC	0.343																																					p.R521H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1562A	16						.						87.0	90.0	89.0					16																	47196467		2202	4300	6502	45753968	SO:0001583	missense	81533	exon15			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1562G>A	16.37:g.47196467C>T	ENSP00000319918:p.Arg521His		45753968	NM_030790	Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731647	0.89390	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.63096	-0.02;-0.02	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.966;0.982	T	0.68172	-0.5479	10	0.15499	T	0.54	-25.9559	19.4863	0.95030	0.0:1.0:0.0:0.0	.	408;521	F5GXC5;Q8TB96	.;TIP_HUMAN	H	521;181;266;408	ENSP00000319918:R521H;ENSP00000441062:R408H	ENSP00000319918:R521H	R	-	2	0	ITFG1	45753968	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	6.832000	0.75329	2.618000	0.88619	0.591000	0.81541	CGT		0.343	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790	
ZNF423	23090	broad.mit.edu	37	16	49671152	49671152	+	Silent	SNP	G	G	A	rs144950533		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:49671152G>A	ENST00000561648.1	-	4	1964	c.1911C>T	c.(1909-1911)tgC>tgT	p.C637C	ZNF423_ENST00000563137.2_Silent_p.C577C|ZNF423_ENST00000562871.1_Silent_p.C577C|ZNF423_ENST00000567169.1_Silent_p.C520C|ZNF423_ENST00000262383.2_Silent_p.C637C|ZNF423_ENST00000562520.1_Silent_p.C577C|ZNF423_ENST00000535559.1_Silent_p.C520C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	637					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C637C(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ACTTGAGGTCGCATTGATTGC	0.587																																					p.C637C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1911T	16						.	G		0,4396		0,0,2198	69.0	67.0	68.0		1911	-4.7	1.0	16	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF423	NM_015069.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		637/1285	49671152	1,12995	2198	4300	6498	48228653	SO:0001819	synonymous_variant	23090	exon5			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1911C>T	16.37:g.49671152G>A			48228653	NM_015069	O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	CCDS32445.1																																																																																				0.587	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069	
IRX6	79190	broad.mit.edu	37	16	55362817	55362817	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:55362817C>T	ENST00000290552.7	+	5	2259	c.927C>T	c.(925-927)tgC>tgT	p.C309C	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	309					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.C309C(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCAGGGAGTGCGGCCTGGCTG	0.657																																					p.C309C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C927T	16						.						45.0	49.0	47.0					16																	55362817		2195	4294	6489	53920318	SO:0001819	synonymous_variant	79190	exon5			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.927C>T	16.37:g.55362817C>T			53920318	NM_024335	B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	CCDS32449.1																																																																																				0.657	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335	
CES5A	221223	broad.mit.edu	37	16	55883680	55883680	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:55883680C>T	ENST00000290567.9	-	11	1400	c.1279G>A	c.(1279-1281)Ggt>Agt	p.G427S	CES5A_ENST00000521992.1_Missense_Mutation_p.G456S|CES5A_ENST00000518005.1_Missense_Mutation_p.G321S|CES5A_ENST00000520435.1_Missense_Mutation_p.G397S|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	427						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.G456S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACAGGTGCACCAGCATCTGAC	0.552																																					p.G427S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1279A	16						.						70.0	61.0	64.0					16																	55883680		1568	3582	5150	54441181	SO:0001583	missense	221223	exon11			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1279G>A	16.37:g.55883680C>T	ENSP00000290567:p.Gly427Ser		54441181	NM_001143685	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	.	17.77	3.471612	0.63737	.	.	ENSG00000159398	ENST00000521992;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.03	5.03	0.67393	Carboxylesterase, type B (1);	0.529435	0.15964	N	0.236085	T	0.41766	0.1173	M	0.69463	2.115	0.42118	D	0.991417	D	0.76494	0.999	D	0.75020	0.985	T	0.15292	-1.0442	10	0.62326	D	0.03	.	16.6465	0.85178	0.0:1.0:0.0:0.0	.	427	Q6NT32	EST5A_HUMAN	S	456;321;427;397;207	ENSP00000428864:G456S;ENSP00000428571:G321S;ENSP00000290567:G427S;ENSP00000428887:G397S	ENSP00000290567:G427S	G	-	1	0	CES5A	54441181	0.989000	0.36119	0.655000	0.29622	0.423000	0.31445	4.408000	0.59761	2.718000	0.92993	0.462000	0.41574	GGT		0.552	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	
CETP	1071	broad.mit.edu	37	16	57003380	57003380	+	Missense_Mutation	SNP	G	G	A	rs371258270		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:57003380G>A	ENST00000566128.1	+	3	388	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000200676.3_Missense_Mutation_p.V106M|CETP_ENST00000379780.2_Missense_Mutation_p.V106M					cholesteryl ester transfer protein, plasma									p.V106M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CATTCAGAACGTGTCTGTGGT	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20708	0.0		0.0	False		,,,				2504	0.0				p.V106M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G316A	16						.	G	MET/VAL	1,4395	2.1+/-5.4	0,1,2197	199.0	177.0	185.0		316	-1.9	0.0	16		185	0,8600		0,0,4300	no	missense	CETP	NM_000078.2	21	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	106/494	57003380	1,12995	2198	4300	6498	55560881	SO:0001583	missense	1071	exon3			M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.121G>A	16.37:g.57003380G>A	ENSP00000456276:p.Val41Met		55560881	NM_000078		Missense_Mutation	SNP	ENST00000566128.1	37		.	.	.	.	.	.	.	.	.	.	G	10.38	1.333031	0.24167	2.27E-4	0.0	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.05925	3.37;3.37	3.87	-1.86	0.07760	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.255835	0.31624	U	0.007328	T	0.11281	0.0275	L	0.36672	1.1	0.18873	N	0.999986	D;D	0.89917	0.994;1.0	P;D	0.70716	0.579;0.97	T	0.07712	-1.0758	10	0.59425	D	0.04	-0.476	7.7852	0.29087	0.48:0.0:0.52:0.0	.	106;106	P11597-2;P11597	.;CETP_HUMAN	M	106	ENSP00000200676:V106M;ENSP00000369106:V106M	ENSP00000200676:V106M	V	+	1	0	CETP	55560881	0.086000	0.21541	0.001000	0.08648	0.181000	0.23173	1.282000	0.33226	-0.859000	0.04105	-0.469000	0.05056	GTG		0.567	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078	
GPR114	221188	broad.mit.edu	37	16	57601915	57601915	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:57601915C>T	ENST00000340339.4	+	9	1492	c.969C>T	c.(967-969)taC>taT	p.Y323Y	GPR114_ENST00000349457.3_Silent_p.Y323Y|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	323					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.Y323Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CCCTGCACTACGCGCTGCTCA	0.612																																					p.Y323Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C969T	16						.						104.0	81.0	89.0					16																	57601915		2198	4300	6498	56159416	SO:0001819	synonymous_variant	221188	exon9			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.969C>T	16.37:g.57601915C>T			56159416	NM_153837	B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Silent	SNP	ENST00000340339.4	37	CCDS10785.1																																																																																				0.612	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837	
GOT2	2806	broad.mit.edu	37	16	58752151	58752151	+	Silent	SNP	C	C	T	rs181076765		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:58752151C>T	ENST00000245206.5	-	6	779	c.651G>A	c.(649-651)acG>acA	p.T217T	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Silent_p.T174T	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	217					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.T217T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	GGTCCACTCCCGTGGGATTGT	0.493																																					p.T217T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G651A	16						.						118.0	106.0	110.0					16																	58752151		2198	4300	6498	57309652	SO:0001819	synonymous_variant	2806	exon6				CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.651G>A	16.37:g.58752151C>T			57309652	NM_002080	B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Silent	SNP	ENST00000245206.5	37	CCDS10801.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	9.175	1.022238	0.19433	.	.	ENSG00000125166	ENST00000425685	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	T	0.44371	0.1290	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58498	-0.7626	4	.	.	.	-4.826	7.7397	0.28835	0.1922:0.4884:0.0649:0.2545	.	.	.	.	Q	178	.	.	R	-	2	0	GOT2	57309652	0.000000	0.05858	0.026000	0.17262	0.972000	0.66771	-6.289000	0.00072	-3.381000	0.00175	-1.163000	0.01768	CGG		0.493	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3		
KCTD19	146212	broad.mit.edu	37	16	67333309	67333309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:67333309G>A	ENST00000304372.5	-	6	998	c.943C>T	c.(943-945)Cga>Tga	p.R315*	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	315					protein homooligomerization (GO:0051260)			p.R315*(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATGTACAGTCGGCTTCCGTCT	0.597																																					p.R315X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C943T	16						.						89.0	94.0	93.0					16																	67333309		2119	4232	6351	65890810	SO:0001587	stop_gained	146212	exon6			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.943C>T	16.37:g.67333309G>A	ENSP00000305702:p.Arg315*		65890810	NM_001100915	B4DZ49|Q8N804	Nonsense_Mutation	SNP	ENST00000304372.5	37	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	9.633	1.136863	0.21123	.	.	ENSG00000168676	ENST00000304372	.	.	.	5.77	-0.972	0.10300	.	0.225469	0.28889	N	0.013816	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.962	17.7919	0.88555	0.0:0.0:0.7283:0.2717	.	.	.	.	X	315	.	ENSP00000305702:R315X	R	-	1	2	KCTD19	65890810	0.665000	0.27466	0.150000	0.22450	0.390000	0.30446	0.182000	0.16900	-0.368000	0.08040	-1.014000	0.02459	CGA		0.597	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367	
PARD6A	50855	broad.mit.edu	37	16	67696050	67696050	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:67696050G>A	ENST00000219255.3	+	3	621	c.541G>A	c.(541-543)Gtg>Atg	p.V181M	PARD6A_ENST00000602551.1_Missense_Mutation_p.V151M|ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000219251.8_5'Flank|PARD6A_ENST00000458121.2_Missense_Mutation_p.V180M|ACD_ENST00000393919.4_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	181	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)	p.V181M(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GAGCGTGCGTGTGGCTCCCCA	0.642																																					p.V180M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G538A	16						.						75.0	78.0	77.0					16																	67696050		2198	4300	6498	66253551	SO:0001583	missense	50855	exon3				CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.541G>A	16.37:g.67696050G>A	ENSP00000219255:p.Val181Met		66253551	NM_001037281	O14911|Q9NPJ7	Missense_Mutation	SNP	ENST00000219255.3	37	CCDS10843.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401858	0.83120	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	T;T	0.47177	0.86;0.85	5.39	5.39	0.77823	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	L	0.56340	1.77	0.80722	D	1	P;P	0.48162	0.813;0.906	P;P	0.57468	0.821;0.81	T	0.62586	-0.6823	10	0.56958	D	0.05	-11.871	18.7537	0.91825	0.0:0.0:1.0:0.0	.	181;180	Q9NPB6;Q9NPB6-2	PAR6A_HUMAN;.	M	180;181	ENSP00000392388:V180M;ENSP00000219255:V181M	ENSP00000219255:V181M	V	+	1	0	PARD6A	66253551	1.000000	0.71417	0.949000	0.38748	0.934000	0.57294	7.647000	0.83462	2.509000	0.84616	0.563000	0.77884	GTG		0.642	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2	NM_016948	
PARD6A	50855	broad.mit.edu	37	16	67696222	67696222	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:67696222A>C	ENST00000219255.3	+	3	793	c.713A>C	c.(712-714)aAc>aCc	p.N238T	PARD6A_ENST00000602551.1_Missense_Mutation_p.N208T|ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000219251.8_5'Flank|PARD6A_ENST00000458121.2_Missense_Mutation_p.N237T|ACD_ENST00000393919.4_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	238	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ATGGTTGCCAACAGCCATAAC	0.572																																					p.N237T												.	.	0			c.A710C	16						.						127.0	98.0	108.0					16																	67696222		2198	4300	6498	66253723	SO:0001583	missense	50855	exon3				CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.713A>C	16.37:g.67696222A>C	ENSP00000219255:p.Asn238Thr		66253723	NM_001037281	O14911|Q9NPJ7	Missense_Mutation	SNP	ENST00000219255.3	37	CCDS10843.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246101	0.59103	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	T;T	0.24908	1.83;1.83	5.15	4.04	0.47022	PDZ/DHR/GLGF (4);	0.049024	0.85682	D	0.000000	T	0.37892	0.1020	L	0.38692	1.165	0.58432	D	0.999996	P;D	0.89917	0.895;1.0	D;D	0.91635	0.973;0.999	T	0.04191	-1.0970	10	0.40728	T	0.16	-20.2553	10.9606	0.47383	0.8596:0.0:0.0:0.1404	.	238;237	Q9NPB6;Q9NPB6-2	PAR6A_HUMAN;.	T	237;238	ENSP00000392388:N237T;ENSP00000219255:N238T	ENSP00000219255:N238T	N	+	2	0	PARD6A	66253723	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.167000	0.77562	0.774000	0.33427	0.460000	0.39030	AAC		0.572	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2	NM_016948	
EDC4	23644	broad.mit.edu	37	16	67911201	67911201	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:67911201G>A	ENST00000358933.5	+	5	772	c.533G>A	c.(532-534)aGt>aAt	p.S178N	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	178					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S178N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TTCACAGGCAGTGTGGCTGAT	0.597																																					p.S178N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G533A	16						.						109.0	94.0	99.0					16																	67911201		2198	4300	6498	66468702	SO:0001583	missense	23644	exon5			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.533G>A	16.37:g.67911201G>A	ENSP00000351811:p.Ser178Asn		66468702	NM_014329	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	De_novo_Start_OutOfFrame	SNP	ENST00000358933.5	37	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177749	0.38413	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	T	0.41400	1.0	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.114155	0.64402	D	0.000007	T	0.35799	0.0944	L	0.36672	1.1	0.40792	D	0.983264	B;P	0.34462	0.327;0.454	B;B	0.32677	0.067;0.15	T	0.10382	-1.0632	10	0.19147	T	0.46	-11.5849	19.4549	0.94884	0.0:0.0:1.0:0.0	.	110;178	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	N	178;110	ENSP00000351811:S178N	ENSP00000351811:S178N	S	+	2	0	EDC4	66468702	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.282000	0.78630	2.710000	0.92621	0.655000	0.94253	AGT		0.597	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329	
ESRP2	80004	broad.mit.edu	37	16	68265749	68265749	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:68265749G>A	ENST00000565858.1	-	10	1371	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Nonsense_Mutation_p.R419*	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	429	RRM 2.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R419*(2)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TCAATGTATCGCTTACCCAGC	0.627																																					p.R419X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1255T	16						.						52.0	48.0	49.0					16																	68265749		2198	4300	6498	66823250	SO:0001587	stop_gained	80004	exon10			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1285C>T	16.37:g.68265749G>A	ENSP00000454554:p.Arg429*		66823250	NM_024939	Q8N6H8|Q8WZ15|Q9H6I4	Nonsense_Mutation	SNP	ENST00000565858.1	37		.	.	.	.	.	.	.	.	.	.	G	41	8.870955	0.98984	.	.	ENSG00000103067	ENST00000473183	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.023	20.1278	0.97990	0.0:0.0:1.0:0.0	.	.	.	.	X	419	.	ENSP00000418748:R419X	R	-	1	2	ESRP2	66823250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.902000	0.63266	2.768000	0.95171	0.561000	0.74099	CGA		0.627	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939	
CHTF8	54921	broad.mit.edu	37	16	69152319	69152319	+	3'UTR	SNP	C	C	T	rs113161750	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:69152319C>T	ENST00000448552.2	-	0	2496				CHTF8_ENST00000518041.1_3'UTR|CHTF8_ENST00000523421.1_3'UTR|HAS3_ENST00000219322.3_Missense_Mutation_p.T267M|CHTF8_ENST00000306585.6_3'UTR	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)						cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T267M(1)									GTCAGAGCTACGGAAGCATGG	0.552																																					p.T267M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C800T	16						.	C	,,MET/THR	4,4392	8.1+/-20.4	0,4,2194	128.0	99.0	109.0		,,800	-0.1	0.4	16	dbSNP_132	109	0,8600		0,0,4300	no	utr-3,utr-3,missense	HAS3,CHTF8	NM_001039690.3,NM_001040146.3,NM_138612.2	,,81	0,4,6494	TT,TC,CC		0.0,0.091,0.0308	,,	,,267/282	69152319	4,12992	2198	4300	6498	67709820	SO:0001624	3_prime_UTR_variant	3038	exon4				CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.*2009G>A	16.37:g.69152319C>T			67709820	NM_138612	A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Missense_Mutation	SNP	ENST00000448552.2	37	CCDS42185.1	.	.	.	.	.	.	.	.	.	.	C	9.814	1.183824	0.21870	9.1E-4	0.0	ENSG00000103044	ENST00000219322	T	0.48201	0.82	5.56	-0.0605	0.13788	.	.	.	.	.	T	0.31420	0.0796	.	.	.	0.27229	N	0.959463	B	0.30021	0.265	B	0.26864	0.074	T	0.29212	-1.0019	8	0.87932	D	0	.	3.2121	0.06686	0.3159:0.4247:0.0:0.2594	.	267	O00219-2	.	M	267	ENSP00000219322:T267M	ENSP00000219322:T267M	T	+	2	0	HAS3	67709820	0.091000	0.21658	0.422000	0.26621	0.782000	0.44232	-0.275000	0.08525	0.044000	0.15775	-0.137000	0.14449	ACG		0.552	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376352.2	NM_017804	
PDPR	55066	broad.mit.edu	37	16	70162687	70162687	+	Splice_Site	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:70162687G>A	ENST00000288050.4	+	5	1319	c.362G>A	c.(361-363)gGt>gAt	p.G121D	PDPR_ENST00000398122.3_Splice_Site_p.G21D|PDPR_ENST00000568530.1_Splice_Site_p.G121D	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	121					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.G121D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TTTCTTACAGGTTACACAAGG	0.458																																					p.G121D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G362A	16						.						36.0	38.0	37.0					16																	70162687		1850	4107	5957	68720188	SO:0001630	splice_region_variant	55066	exon5				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.362-1G>A	16.37:g.70162687G>A			68720188	NM_017990	A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709258	0.89018	.	.	ENSG00000090857	ENST00000288050;ENST00000398122	T;T	0.80994	-1.44;-1.44	4.5	4.5	0.54988	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.89938	0.6860	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91088	0.4904	9	.	.	.	.	14.3298	0.66548	0.0:0.0:1.0:0.0	.	121	Q8NCN5	PDPR_HUMAN	D	121;21	ENSP00000288050:G121D;ENSP00000381190:G21D	.	G	+	2	0	PDPR	68720188	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.187000	0.77730	2.042000	0.60477	0.555000	0.69702	GGT		0.458	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990	Missense_Mutation
FUK	197258	broad.mit.edu	37	16	70513117	70513117	+	Silent	SNP	G	G	A	rs201537001		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:70513117G>A	ENST00000288078.6	+	23	3196	c.2964G>A	c.(2962-2964)tcG>tcA	p.S988S	FUK_ENST00000378912.2_Silent_p.S994S|FUK_ENST00000571514.1_Silent_p.S479S	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	988						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.S988S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GCCTGACCTCGTACTGGGAGC	0.632																																					p.S988S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2964A	16						.	A		0,4198		0,0,2099	36.0	40.0	38.0		2964	-9.1	0.1	16		38	12,8404		0,12,4196	no	coding-synonymous	FUK	NM_145059.2		0,12,6295	AA,AG,GG		0.1426,0.0,0.0951		988/1085	70513117	12,12602	2099	4208	6307	69070618	SO:0001819	synonymous_variant	197258	exon23				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.2964G>A	16.37:g.70513117G>A			69070618	NM_145059	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	CCDS10891.2																																																																																				0.632	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059	
CALB2	794	broad.mit.edu	37	16	71423724	71423724	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:71423724C>T	ENST00000302628.4	+	11	849	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	258	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R258C(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GAAGCTCTACCGCAAGGACCT	0.557																																					p.R258C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C772T	16						.						109.0	101.0	104.0					16																	71423724		2198	4300	6498	69981225	SO:0001583	missense	794	exon11			X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.772C>T	16.37:g.71423724C>T	ENSP00000307508:p.Arg258Cys		69981225	NM_001740	A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	ENST00000302628.4	37	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999484	0.74818	.	.	ENSG00000172137	ENST00000302628	D	0.83992	-1.79	5.35	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.88529	0.6461	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89028	0.3440	10	0.87932	D	0	-11.6433	12.2168	0.54410	0.1771:0.8229:0.0:0.0	.	258	P22676	CALB2_HUMAN	C	258	ENSP00000307508:R258C	ENSP00000307508:R258C	R	+	1	0	CALB2	69981225	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.170000	0.50816	1.190000	0.43042	0.455000	0.32223	CGC		0.557	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740	
ZNF23	7571	broad.mit.edu	37	16	71482621	71482621	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:71482621C>T	ENST00000393539.2	-	6	2120	c.1307G>A	c.(1306-1308)cGg>cAg	p.R436Q	ZNF23_ENST00000564528.1_Missense_Mutation_p.R378Q|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.R378Q|ZNF23_ENST00000357254.4_Missense_Mutation_p.R436Q|ZNF23_ENST00000358700.2_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.R436Q|ZNF23_ENST00000539742.1_5'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R436Q(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)		CAGATGCTGCCGAAATTGGGA	0.458																																					p.R436Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1307A	16						.						58.0	58.0	58.0					16																	71482621		2198	4300	6498	70040122	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.1307G>A	16.37:g.71482621C>T	ENSP00000377171:p.Arg436Gln		70040122	NM_145911	Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231342	0.39399	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.04275	3.66;3.66;3.66;3.66	4.27	3.32	0.38043	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.184730	0.26784	N	0.022515	T	0.07369	0.0186	N	0.16833	0.445	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.65323	0.82;0.934	T	0.28650	-1.0037	10	0.33940	T	0.23	-10.1157	7.8823	0.29629	0.0:0.8903:0.0:0.1097	.	436;436	B3KR55;P17027	.;ZNF23_HUMAN	Q	436;436;436;378;378;208	ENSP00000377171:R436Q;ENSP00000349796:R436Q;ENSP00000395712:R436Q;ENSP00000387673:R378Q	ENSP00000349796:R436Q	R	-	2	0	ZNF23	70040122	0.000000	0.05858	0.999000	0.59377	0.691000	0.40173	-0.130000	0.10498	1.388000	0.46506	0.561000	0.74099	CGG		0.458	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911	
MARVELD3	91862	broad.mit.edu	37	16	71674883	71674883	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:71674883G>A	ENST00000299952.4	+	3	1229	c.1186G>A	c.(1186-1188)Gga>Aga	p.G396R	MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	0					cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)		p.G396R(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				AGAACAGCCCGGAAGTTACAG	0.512																																					p.G396R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1186A	16						.						49.0	42.0	44.0					16																	71674883		2198	4300	6498	70232384	SO:0001583	missense	91862	exon3			BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.1186G>A	16.37:g.71674883G>A	ENSP00000299952:p.Gly396Arg		70232384	NM_001017967	A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000299952.4	37	CCDS32478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.10|12.10	1.837668|1.837668	0.32513|0.32513	.|.	.|.	ENSG00000140832|ENSG00000040199	ENST00000299952|ENST00000299971	T|.	0.37752|.	1.18|.	5.67|5.67	-2.35|-2.35	0.06684|0.06684	.|.	0.693312|.	0.15616|.	N|.	0.253144|.	T|T	0.52565|0.52565	0.1742|0.1742	.|.	.|.	.|.	0.34892|0.34892	D|D	0.745627|0.745627	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.57705|0.57705	-0.7765|-0.7765	9|5	0.11182|0.59425	T|D	0.66|0.04	-11.9522|-11.9522	7.6496|7.6496	0.28340|0.28340	0.5537:0.306:0.1403:0.0|0.5537:0.306:0.1403:0.0	.|.	396|.	Q96A59-2|.	.|.	R|W	396|767	ENSP00000299952:G396R|.	ENSP00000299952:G396R|ENSP00000299971:R767W	G|R	+|-	1|1	0|2	MARVELD3|PHLPP2	70232384|70232384	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.554000|-0.554000	0.06006|0.06006	-1.235000|-1.235000	0.02545|0.02545	-3.712000|-3.712000	0.00023|0.00023	GGA|CGG		0.512	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858	
HPR	3250	broad.mit.edu	37	16	72110265	72110265	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:72110265C>T	ENST00000540303.2	+	5	364	c.332C>T	c.(331-333)gCc>gTc	p.A111V	HPR_ENST00000561690.1_Intron|HPR_ENST00000228226.8_Missense_Mutation_p.A148V|HPR_ENST00000356967.5_Missense_Mutation_p.A111V	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)	p.A111V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CACCTGGATGCCAAAGGCAGC	0.542																																					p.A111V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C332T	16						.						33.0	23.0	27.0					16																	72110265		1933	4121	6054	70667766	SO:0001583	missense	3250	exon5			BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.332C>T	16.37:g.72110265C>T	ENSP00000441828:p.Ala111Val		70667766	NM_020995	Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	.	12.50	1.957839	0.34565	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.89123	-2.47;-2.47;-2.47	2.46	2.46	0.29980	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.068639	0.64402	D	0.000013	D	0.90584	0.7048	L	0.48218	1.51	0.39527	D	0.968611	D	0.89917	1.0	D	0.77004	0.989	D	0.89086	0.3479	10	0.36615	T	0.2	.	10.6658	0.45731	0.0:1.0:0.0:0.0	.	111	P00739	HPTR_HUMAN	V	111;111;148	ENSP00000349451:A111V;ENSP00000441828:A111V;ENSP00000228226:A148V	ENSP00000228226:A148V	A	+	2	0	HP	70667766	0.961000	0.32948	0.973000	0.42090	0.213000	0.24496	0.921000	0.28718	1.381000	0.46364	0.194000	0.17425	GCC		0.542	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995	
DHX38	9785	broad.mit.edu	37	16	72137514	72137514	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:72137514G>A	ENST00000268482.3	+	13	2160	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	551	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.V551M(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CAACAGCATCGTGATCGTGGT	0.547																																					p.V551M	Melanoma(97;711 1442 7855 13832 28836)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1651A	16						.						116.0	91.0	100.0					16																	72137514		2198	4300	6498	70695015	SO:0001583	missense	9785	exon13			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1651G>A	16.37:g.72137514G>A	ENSP00000268482:p.Val551Met		70695015	NM_014003	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661756	0.88154	.	.	ENSG00000140829	ENST00000268482	T	0.03635	3.86	5.8	5.8	0.92144	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	M	0.75447	2.3	0.80722	D	1	D	0.67145	0.996	P	0.59643	0.861	T	0.00022	-1.2340	10	0.62326	D	0.03	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	551	Q92620	PRP16_HUMAN	M	551	ENSP00000268482:V551M	ENSP00000268482:V551M	V	+	1	0	DHX38	70695015	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.519000	0.73768	2.735000	0.93741	0.655000	0.94253	GTG		0.547	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003	
DHX38	9785	broad.mit.edu	37	16	72138441	72138441	+	Silent	SNP	G	G	A	rs199994362	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:72138441G>A	ENST00000268482.3	+	15	2576	c.2067G>A	c.(2065-2067)gcG>gcA	p.A689A	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	689	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.A689A(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CGATGGATGCGGAGAAGTTTG	0.572													G|||	5	0.000998403	0.0	0.0	5008	,	,		17099	0.0		0.0	False		,,,				2504	0.0051				p.A689A	Melanoma(97;711 1442 7855 13832 28836)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2067A	16						.	G		0,4396		0,0,2198	242.0	177.0	199.0		2067	-0.1	1.0	16		199	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DHX38	NM_014003.3		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		689/1228	72138441	1,12995	2198	4300	6498	70695942	SO:0001819	synonymous_variant	9785	exon15			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2067G>A	16.37:g.72138441G>A			70695942	NM_014003	B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	CCDS10907.1																																																																																				0.572	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003	
ZFHX3	463	broad.mit.edu	37	16	72993586	72993586	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:72993586G>A	ENST00000268489.5	-	2	1131	c.459C>T	c.(457-459)ggC>ggT	p.G153G	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	153					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G153G(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGCGCCCCCGCCCTGGGTCA	0.677																																					p.G153G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C459T	16						.						30.0	35.0	33.0					16																	72993586		2198	4300	6498	71551087	SO:0001819	synonymous_variant	463	exon2			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.459C>T	16.37:g.72993586G>A			71551087	NM_006885	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.677	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
ADAMTS18	170692	broad.mit.edu	37	16	77401380	77401380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:77401380G>A	ENST00000282849.5	-	4	1154	c.736C>T	c.(736-738)Cga>Tga	p.R246*	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	246					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.R246*(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						TGCAACCTTCGATGGTGATAC	0.488																																					p.R246X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C736T	16						.						88.0	83.0	85.0					16																	77401380		2198	4300	6498	75958881	SO:0001587	stop_gained	170692	exon4			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.736C>T	16.37:g.77401380G>A	ENSP00000282849:p.Arg246*		75958881	NM_199355	Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	36	5.785162	0.96937	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	.	.	.	4.57	2.56	0.30785	.	1.112010	0.06744	N	0.778858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	13.2947	0.60290	0.0:0.5446:0.4554:0.0	.	.	.	.	X	246	.	ENSP00000282849:R246X	R	-	1	2	ADAMTS18	75958881	0.977000	0.34250	0.453000	0.27007	0.911000	0.54048	2.131000	0.42074	0.522000	0.28464	-0.314000	0.08810	CGA		0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
CLEC3A	10143	broad.mit.edu	37	16	78064512	78064512	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:78064512C>T	ENST00000575655.1	+	3	449	c.368C>T	c.(367-369)cCa>cTa	p.P123L	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000299642.4_Missense_Mutation_p.P132L|CLEC3A_ENST00000565808.1_3'UTR	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	123	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.P123L(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AGGAGCCTGCCAGGTGTCAAT	0.507																																					p.P123L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C368T	16						.						92.0	78.0	83.0					16																	78064512		2198	4300	6498	76622013	SO:0001583	missense	10143	exon3			AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.368C>T	16.37:g.78064512C>T	ENSP00000460682:p.Pro123Leu		76622013	NM_005752	B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37		.	.	.	.	.	.	.	.	.	.	C	19.02	3.745334	0.69418	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.76	4.81	0.61882	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.096180	0.64402	D	0.000001	T	0.60183	0.2249	L	0.58428	1.81	0.80722	D	1	P	0.42518	0.782	P	0.45276	0.475	T	0.61637	-0.7022	9	0.41790	T	0.15	-10.2239	15.2132	0.73241	0.0:0.7336:0.2664:0.0	.	123	O75596	CLC3A_HUMAN	L	123	.	ENSP00000299642:P123L	P	+	2	0	CLEC3A	76622013	1.000000	0.71417	0.906000	0.35671	0.938000	0.57974	5.460000	0.66691	1.559000	0.49555	0.650000	0.86243	CCA		0.507	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752	
WWOX	51741	broad.mit.edu	37	16	78149016	78149016	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:78149016A>G	ENST00000566780.1	+	4	740	c.374A>G	c.(373-375)aAa>aGa	p.K125R	WWOX_ENST00000539474.2_Missense_Mutation_p.K125R|WWOX_ENST00000406884.2_Missense_Mutation_p.K125R|WWOX_ENST00000355860.3_Missense_Mutation_p.K125R|WWOX_ENST00000402655.2_Missense_Mutation_p.K125R|WWOX_ENST00000408984.3_Missense_Mutation_p.K125R	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	125	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)	p.K125R(2)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTCACTGGCAAAGTGGTTGTG	0.468																																					p.K125R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A374G	16						.						94.0	94.0	94.0					16																	78149016		1857	4095	5952	76706517	SO:0001583	missense	51741	exon4			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.374A>G	16.37:g.78149016A>G	ENSP00000457230:p.Lys125Arg		76706517	NM_130791	A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.233136	0.39498	.	.	ENSG00000186153	ENST00000408984;ENST00000355860;ENST00000402655;ENST00000406884;ENST00000539474	T;T;T;T;T	0.58940	1.62;0.3;0.3;0.3;0.3	5.6	4.5	0.54988	NAD(P)-binding domain (1);	0.051016	0.85682	D	0.000000	T	0.47210	0.1433	L	0.48260	1.515	0.46954	D	0.999263	B;B;B;P	0.39181	0.176;0.095;0.001;0.663	B;B;B;B	0.37943	0.132;0.09;0.015;0.261	T	0.37056	-0.9722	10	0.17369	T	0.5	.	11.243	0.48980	0.9287:0.0:0.0713:0.0	.	125;125;125;125	Q9NZC7-6;Q9NZC7-5;Q9NZC7;Q9NZC7-3	.;.;WWOX_HUMAN;.	R	125	ENSP00000386161:K125R;ENSP00000348119:K125R;ENSP00000384238:K125R;ENSP00000384495:K125R;ENSP00000445210:K125R	ENSP00000348119:K125R	K	+	2	0	WWOX	76706517	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.350000	0.52224	2.251000	0.74343	0.528000	0.53228	AAA		0.468	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1		
WWOX	51741	broad.mit.edu	37	16	78420807	78420807	+	Silent	SNP	C	C	T	rs201593515		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:78420807C>T	ENST00000566780.1	+	6	933	c.567C>T	c.(565-567)agC>agT	p.S189S	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Silent_p.S189S	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	189	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)	p.S189S(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TGCTCCGTAGCGTGCAGCATT	0.398													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18039	0.0		0.0	False		,,,				2504	0.0				p.S189S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C567T	16						.						120.0	117.0	118.0					16																	78420807		1959	4145	6104	76978308	SO:0001819	synonymous_variant	51741	exon6			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.567C>T	16.37:g.78420807C>T			76978308	NM_016373	A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Silent	SNP	ENST00000566780.1	37	CCDS42196.1																																																																																				0.398	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1		
CMIP	80790	broad.mit.edu	37	16	81703766	81703766	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:81703766G>A	ENST00000537098.3	+	8	917	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	CMIP_ENST00000539778.2_Missense_Mutation_p.R188Q|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.R129Q	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	282						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R187Q(1)		endometrium(5)|kidney(1)|lung(7)	13						AAGTGCCCGCGACTGAGGCTG	0.597																																					p.R188Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G563A	16						.						49.0	52.0	51.0					16																	81703766		2027	4177	6204	80261267	SO:0001583	missense	80790	exon8			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.845G>A	16.37:g.81703766G>A	ENSP00000446100:p.Arg282Gln		80261267	NM_030629	Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055493	0.75960	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.10099	2.91;2.91	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	T	0.19886	0.0478	N	0.24115	0.695	0.58432	D	0.999992	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.66847	0.947;0.947;0.945	T	0.07347	-1.0777	10	0.26408	T	0.33	.	18.6513	0.91431	0.0:0.0:1.0:0.0	.	129;188;282	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	Q	282;188;188;95	ENSP00000446100:R282Q;ENSP00000440401:R188Q	ENSP00000381120:R188Q	R	+	2	0	CMIP	80261267	1.000000	0.71417	0.890000	0.34922	0.983000	0.72400	9.222000	0.95196	2.402000	0.81655	0.467000	0.42956	CGA		0.597	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629	
MBTPS1	8720	broad.mit.edu	37	16	84125349	84125349	+	Silent	SNP	C	C	T	rs532832756		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:84125349C>T	ENST00000343411.3	-	7	1446	c.951G>A	c.(949-951)ccG>ccA	p.P317P	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	317	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.P317P(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTCAACAAACGGATGATCCA	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17087	0.0		0.0	False		,,,				2504	0.0				p.P317P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G951A	16						.						89.0	76.0	81.0					16																	84125349		2200	4300	6500	82682850	SO:0001819	synonymous_variant	8720	exon7			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.951G>A	16.37:g.84125349C>T			82682850	NM_003791	A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	CCDS10941.1																																																																																				0.493	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791	
KCNG4	93107	broad.mit.edu	37	16	84256456	84256456	+	Silent	SNP	C	C	T	rs149847719		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:84256456C>T	ENST00000308251.4	-	3	995	c.927G>A	c.(925-927)tcG>tcA	p.S309S		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	309					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.S309S(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						ACACCGCCAGCGACACGTAGT	0.642																																					p.S309S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G927A	16						.	C		0,4400		0,0,2200	55.0	59.0	58.0		927	-11.2	0.0	16	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNG4	NM_172347.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		309/520	84256456	1,12999	2200	4300	6500	82813957	SO:0001819	synonymous_variant	93107	exon3			AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.927G>A	16.37:g.84256456C>T			82813957	NM_172347	Q96H24	Silent	SNP	ENST00000308251.4	37	CCDS10945.1																																																																																				0.642	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347	
TLDC1	57707	broad.mit.edu	37	16	84529436	84529436	+	Silent	SNP	C	C	T	rs374570802		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:84529436C>T	ENST00000343629.6	-	3	419	c.237G>A	c.(235-237)gcG>gcA	p.A79A	TLDC1_ENST00000535580.1_Silent_p.A52A|TLDC1_ENST00000561807.1_5'UTR|RP11-517C16.4_ENST00000568771.1_RNA	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	79						lysosomal membrane (GO:0005765)		p.A79A(1)									TGGGTCCCTTCGCCTTCCCTG	0.562																																					p.A79A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G237A	16						.	C		0,4400		0,0,2200	158.0	122.0	134.0		237	-10.0	0.0	16		134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIAA1609	NM_020947.3		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		79/457	84529436	1,12999	2200	4300	6500	83086937	SO:0001819	synonymous_variant	57707	exon3			AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.237G>A	16.37:g.84529436C>T			83086937	NM_020947	Q8IZ64|Q9HCG3|Q9NTE8	Silent	SNP	ENST00000343629.6	37	CCDS32498.1																																																																																				0.562	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947	
ZCCHC14	23174	broad.mit.edu	37	16	87445272	87445272	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:87445272T>A	ENST00000268616.4	-	12	2861	c.2644A>T	c.(2644-2646)Aca>Tca	p.T882S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	882							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.T882S(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ACCCCTGCTGTCCCTGCCATG	0.602																																					p.T882S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2644T	16						.						67.0	55.0	59.0					16																	87445272		2198	4300	6498	86002773	SO:0001583	missense	23174	exon12			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2644A>T	16.37:g.87445272T>A	ENSP00000268616:p.Thr882Ser		86002773	NM_015144	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	T	4.657	0.122157	0.08931	.	.	ENSG00000140948	ENST00000268616	T	0.17854	2.25	5.28	0.0753	0.14399	.	0.395617	0.26314	N	0.025084	T	0.07098	0.0180	N	0.24115	0.695	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.002	T	0.27054	-1.0085	10	0.15499	T	0.54	-2.1641	0.259	0.00216	0.2829:0.2183:0.1382:0.3607	.	882;882	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	S	882	ENSP00000268616:T882S	ENSP00000268616:T882S	T	-	1	0	ZCCHC14	86002773	0.186000	0.23225	0.212000	0.23672	0.389000	0.30415	0.031000	0.13710	0.107000	0.17824	0.533000	0.62120	ACA		0.602	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	
ZC3H18	124245	broad.mit.edu	37	16	88690402	88690402	+	Silent	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:88690402A>G	ENST00000301011.5	+	11	2030	c.1830A>G	c.(1828-1830)ccA>ccG	p.P610P	ZC3H18_ENST00000452588.2_Silent_p.P634P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	610	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P610P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCCGTCCCCAACACCTTCCC	0.652																																					p.P610P	Ovarian(121;375 2276 20373 38669)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1830G	16						.						98.0	94.0	95.0					16																	88690402		2198	4300	6498	87217903	SO:0001819	synonymous_variant	124245	exon11			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1830A>G	16.37:g.88690402A>G			87217903	NM_144604	Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	CCDS10967.1																																																																																				0.652	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	
ANKRD11	29123	broad.mit.edu	37	16	89347487	89347487	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:89347487G>A	ENST00000301030.4	-	9	5923	c.5463C>T	c.(5461-5463)taC>taT	p.Y1821Y	ANKRD11_ENST00000378330.2_Silent_p.Y1821Y	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1821					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.Y1821Y(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)		TGGGAGAGTCGTAGCTGGAGG	0.622																																					p.Y1821Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5463T	16						.						34.0	37.0	36.0					16																	89347487		2198	4299	6497	87874988	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.5463C>T	16.37:g.89347487G>A			87874988	NM_013275	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	CCDS32513.1																																																																																				0.622	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
COG7	91949	broad.mit.edu	37	16	23436214	23436214	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:23436214delC	ENST00000307149.5	-	7	1050	c.865delG	c.(865-867)gccfs	p.A289fs		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	289					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.A289fs*54(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GGCATGAGGGCCCCCAGGGTC	0.627																																					p.A289fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.865delG	16						.						45.0	40.0	42.0					16																	23436214		2197	4300	6497	23343715	SO:0001589	frameshift_variant	91949	exon7			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.865delG	16.37:g.23436214delC	ENSP00000305442:p.Ala289fs		23343715	NM_153603	Q6UWU7	Frame_Shift_Del	DEL	ENST00000307149.5	37	CCDS10610.1																																																																																				0.627	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1		
AQP8	343	broad.mit.edu	37	16	25232875	25232875	+	Frame_Shift_Del	DEL	G	G	-	rs141164855	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:25232875delG	ENST00000219660.5	+	3	483	c.358delG	c.(358-360)gggfs	p.G121fs	AQP8_ENST00000566125.1_Frame_Shift_Del_p.G115fs	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	121					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)	p.M122fs*10(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		ACAGCTGCTCGGGGGGATGCT	0.632																																					p.G120fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.358delG	16						.			0,4264		0,0,2132	76.0	73.0	74.0			-4.2	0.9	16		77	1,8253		0,1,4126	no	frameshift	AQP8	NM_001169.2		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080			25232875	1,12517	2197	4300	6497	25140376	SO:0001589	frameshift_variant	343	exon3			BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.358delG	16.37:g.25232875delG	ENSP00000219660:p.Gly121fs		25140376	NM_001169	Q8IUU3|Q9UIA4	Frame_Shift_Del	DEL	ENST00000219660.5	37	CCDS10626.1																																																																																				0.632	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169	
SLC5A2	6524	broad.mit.edu	37	16	31496148	31496151	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:31496148_31496151delCTCT	ENST00000330498.3	+	3	226_229	c.207_210delCTCT	c.(205-210)gcctctfs	p.AS69fs	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	69					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.L71fs*47(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	AGGTTGGGGCCTCTCTCTTCGCCA	0.657																																					p.69_70del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.207_210del	16						.																																			31403652	SO:0001589	frameshift_variant	6524	exon3				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.207_210delCTCT	16.37:g.31496152_31496155delCTCT	ENSP00000327943:p.Ala69fs		31403649	NM_003041	A2RRD2	Frame_Shift_Del	DEL	ENST00000330498.3	37	CCDS10714.1																																																																																				0.657	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2		
IRX3	79191	broad.mit.edu	37	16	54319087	54319087	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:54319087delC	ENST00000329734.3	-	2	1418	c.706delG	c.(706-708)gagfs	p.E238fs		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	238	Asp/Glu-rich (acidic).				mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E236fs*24(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						tcctcctcctcccccccgagc	0.657																																					p.E236fs	GBM(143;1830 1866 4487 4646 37383)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.706delG	16						.						53.0	32.0	39.0					16																	54319087		2193	4298	6491	52876588	SO:0001589	frameshift_variant	79191	exon2			U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.706delG	16.37:g.54319087delC	ENSP00000331608:p.Glu238fs		52876588	NM_024336	Q7Z4A4|Q7Z4A5|Q8IVC6	Frame_Shift_Del	DEL	ENST00000329734.3	37	CCDS10750.1																																																																																				0.657	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2		
ZNF469	84627	broad.mit.edu	37	16	88494506	88494506	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:88494506delC	ENST00000437464.1	+	1	628	c.628delC	c.(628-630)cccfs	p.P211fs	ZNF469_ENST00000565624.1_Frame_Shift_Del_p.P211fs	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	211	Pro-rich.				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.Q212fs*134(1)		breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						AGCCCCGGGGCCCCCCCAGAG	0.667																																					p.P210fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.628delC	16						.						5.0	5.0	5.0					16																	88494506		679	1552	2231	87022007	SO:0001589	frameshift_variant	84627	exon1			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.628delC	16.37:g.88494506delC	ENSP00000402343:p.Pro211fs		87022007	NM_001127464		Frame_Shift_Del	DEL	ENST00000437464.1	37	CCDS45544.1																																																																																				0.667	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
ZC3H18	124245	broad.mit.edu	37	16	88694459	88694459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:88694459delC	ENST00000301011.5	+	15	2601	c.2401delC	c.(2401-2403)cccfs	p.P802fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.P826fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	802						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q804fs*15(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCAGCAGGCACCCCCCGGGCA	0.612																																					p.P801fs	Ovarian(121;375 2276 20373 38669)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2401delC	16						.						59.0	77.0	70.0					16																	88694459		2198	4300	6498	87221960	SO:0001589	frameshift_variant	124245	exon15			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2401delC	16.37:g.88694459delC	ENSP00000301011:p.Pro802fs		87221960	NM_144604	Q96DG4|Q96MP7	Frame_Shift_Del	DEL	ENST00000301011.5	37	CCDS10967.1																																																																																				0.612	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	
DBNDD1	79007	broad.mit.edu	37	16	90075815	90075815	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr16:90075815G>A	ENST00000002501.6	-	2	186	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S	DBNDD1_ENST00000568838.1_Missense_Mutation_p.P139S|DBNDD1_ENST00000392973.3_Missense_Mutation_p.P25S|DBNDD1_ENST00000304733.3_Missense_Mutation_p.P39S	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	19						cytoplasm (GO:0005737)		p.P19S(1)		kidney(1)|large_intestine(1)|lung(1)	3		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;0.0275)		GCAGCCTGCGGCACCTCAGCC	0.662																																					p.P39S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C115T	16						.						79.0	92.0	88.0					16																	90075815		2075	4207	6282	88603316	SO:0001583	missense	79007	exon2			AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.55C>T	16.37:g.90075815G>A	ENSP00000002501:p.Pro19Ser		88603316	NM_024043	B4DQS3|Q69YT2|Q9BW25	Missense_Mutation	SNP	ENST00000002501.6	37	CCDS42223.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389682	0.25118	.	.	ENSG00000003249	ENST00000304733;ENST00000002501;ENST00000392973	T;T	0.40756	1.02;1.02	4.71	2.43	0.29744	.	0.576204	0.16872	N	0.196073	T	0.30135	0.0755	L	0.42245	1.32	0.09310	N	1	B;B	0.17268	0.021;0.003	B;B	0.17722	0.019;0.012	T	0.07158	-1.0787	9	.	.	.	-12.6188	6.6968	0.23203	0.1127:0.1871:0.7002:0.0	.	19;39	Q9H9R9;Q9H9R9-2	DBND1_HUMAN;.	S	39;19;139	ENSP00000306407:P39S;ENSP00000002501:P19S	.	P	-	1	0	DBNDD1	88603316	0.880000	0.30214	0.142000	0.22268	0.036000	0.12997	1.834000	0.39171	2.170000	0.68504	0.563000	0.77884	CCG		0.662	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272872.1	NM_024043	
CEP192	55125	broad.mit.edu	37	18	13095600	13095600	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr18:13095600G>A	ENST00000325971.8	+	33	6158	c.4565G>A	c.(4564-4566)cGc>cAc	p.R1522H	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.R2118H|CEP192_ENST00000430049.2_Missense_Mutation_p.R1643H			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1522					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.R2118H(1)|p.R1522H(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGGGCGGCTCGCCCGCCTCTG	0.557																																					p.R2118H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6353A	18						.						77.0	77.0	77.0					18																	13095600		2203	4300	6503	13085600	SO:0001583	missense	55125	exon35			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4565G>A	18.37:g.13095600G>A	ENSP00000317156:p.Arg1522His		13085600	NM_032142	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	G	13.91	2.376858	0.42105	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.30448	1.53;1.53;1.53	5.91	-11.8	0.00035	.	0.882696	0.09974	N	0.731835	T	0.10723	0.0262	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.13594	0.001;0.008;0.001;0.001	B;B;B;B	0.09377	0.001;0.004;0.001;0.001	T	0.32241	-0.9914	10	0.29301	T	0.29	6.8547	11.4159	0.49951	0.25:0.533:0.217:0.0	.	1643;2118;122;720	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	H	2118;1522;1522;1643;122	ENSP00000427550:R2118H;ENSP00000317156:R1522H;ENSP00000389190:R1643H	ENSP00000317156:R1522H	R	+	2	0	CEP192	13085600	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.446000	0.21694	-2.678000	0.00410	-1.058000	0.02302	CGC		0.557	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142	
CDH2	1000	broad.mit.edu	37	18	25565021	25565021	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr18:25565021C>T	ENST00000269141.3	-	13	2575	c.2152G>A	c.(2152-2154)Gcg>Acg	p.A718T	CDH2_ENST00000399380.3_Missense_Mutation_p.A687T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	718					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.A718T(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCAAGCCCCGCACCCACAATC	0.488																																					p.A718T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2152A	18						.						95.0	87.0	90.0					18																	25565021		2203	4300	6503	23819019	SO:0001583	missense	1000	exon13			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2152G>A	18.37:g.25565021C>T	ENSP00000269141:p.Ala718Thr		23819019	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144655	0.57044	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.60299	0.24;0.2	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.54111	0.1838	L	0.52126	1.63	0.80722	D	1	B;B	0.31859	0.343;0.153	B;B	0.34873	0.191;0.045	T	0.51012	-0.8759	10	0.38643	T	0.18	.	13.8	0.63194	0.0:0.9304:0.0:0.0696	.	687;718	A8MWK3;P19022	.;CADH2_HUMAN	T	718;687	ENSP00000269141:A718T;ENSP00000382312:A687T	ENSP00000269141:A718T	A	-	1	0	CDH2	23819019	0.998000	0.40836	0.646000	0.29493	0.981000	0.71138	3.788000	0.55446	2.890000	0.99128	0.585000	0.79938	GCG		0.488	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
ATP5A1	498	broad.mit.edu	37	18	43667341	43667341	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr18:43667341T>C	ENST00000398752.6	-	7	1038	c.917A>G	c.(916-918)cAt>cGt	p.H306R	ATP5A1_ENST00000282050.2_Missense_Mutation_p.H306R|ATP5A1_ENST00000590665.1_Missense_Mutation_p.H284R|ATP5A1_ENST00000593152.2_Missense_Mutation_p.H256R	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	306					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.H306R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GATCAAAGCATGTTTGCCATT	0.413																																					p.H306R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A917G	18						.						75.0	76.0	76.0					18																	43667341		2203	4300	6503	41921339	SO:0001583	missense	498	exon7			D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.917A>G	18.37:g.43667341T>C	ENSP00000381736:p.His306Arg		41921339	NM_004046	A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167157	0.78339	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	D;D	0.81659	-1.52;-1.52	4.68	4.68	0.58851	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90400	0.6995	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92167	0.5740	10	0.87932	D	0	-21.9803	14.1589	0.65434	0.0:0.0:0.0:1.0	.	306	P25705	ATPA_HUMAN	R	306;306;256	ENSP00000282050:H306R;ENSP00000381736:H306R	ENSP00000282050:H306R	H	-	2	0	ATP5A1	41921339	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.953000	0.87836	1.749000	0.51849	0.460000	0.39030	CAT		0.413	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046	
TCF4	6925	broad.mit.edu	37	18	53254277	53254277	+	Splice_Site	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr18:53254277G>A	ENST00000356073.4	-	2	682	c.71C>T	c.(70-72)gCg>gTg	p.A24V	TCF4_ENST00000564403.2_Splice_Site_p.A24V|TCF4_ENST00000398339.1_Splice_Site_p.A126V|TCF4_ENST00000567880.1_Splice_Site_p.A24V|TCF4_ENST00000565018.2_Splice_Site_p.A24V|TCF4_ENST00000568673.1_5'Flank|TCF4_ENST00000564999.1_Splice_Site_p.A24V|TCF4_ENST00000566279.1_Splice_Site_p.A24V|TCF4_ENST00000354452.3_Splice_Site_p.A24V|TCF4_ENST00000540999.1_5'Flank|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000537578.1_Intron|TCF4_ENST00000566286.1_Intron	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	24	Essential for MYOD1 inhibition. {ECO:0000250}.				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.A24V(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)		CTTTCTTACCGCACTGAAATC	0.403																																					p.A24V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C71T	18						.						104.0	88.0	94.0					18																	53254277		2203	4300	6503	51405275	SO:0001630	splice_region_variant	6925	exon2			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.72+1C>T	18.37:g.53254277G>A			51405275	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	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843330	0.91197	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000398339	T;T;T	0.31247	1.5;1.5;1.5	5.75	5.75	0.90469	.	0.000000	0.56097	D	0.000033	T	0.47340	0.1440	L	0.47190	1.495	0.53688	D	0.999971	D;D;D	0.89917	1.0;0.958;0.99	D;B;P	0.71656	0.974;0.27;0.551	T	0.12400	-1.0549	10	0.26408	T	0.33	-5.5357	16.1307	0.81436	0.0:0.1338:0.8662:0.0	.	24;126;24	G0LNT9;E9PH57;P15884	.;.;ITF2_HUMAN	V	24;24;126	ENSP00000346440:A24V;ENSP00000348374:A24V;ENSP00000381382:A126V	ENSP00000346440:A24V	A	-	2	0	TCF4	51405275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.456000	0.97628	2.711000	0.92665	0.655000	0.94253	GCG		0.403	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199	Missense_Mutation
NEDD4L	23327	broad.mit.edu	37	18	56057896	56057896	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr18:56057896G>A	ENST00000400345.3	+	29	2957	c.2674G>A	c.(2674-2676)Gcc>Acc	p.A892T	NEDD4L_ENST00000256830.9_Missense_Mutation_p.A788T|NEDD4L_ENST00000382850.4_Missense_Mutation_p.A872T|NEDD4L_ENST00000456986.1_Missense_Mutation_p.A771T|NEDD4L_ENST00000586263.1_Missense_Mutation_p.A864T|NEDD4L_ENST00000589054.1_Missense_Mutation_p.A23T|NEDD4L_ENST00000431212.2_Missense_Mutation_p.A771T|NEDD4L_ENST00000256832.7_Missense_Mutation_p.A752T|NEDD4L_ENST00000356462.6_Missense_Mutation_p.A828T|NEDD4L_ENST00000456173.2_Missense_Mutation_p.A751T|NEDD4L_ENST00000357895.5_Missense_Mutation_p.A884T|NEDD4L_ENST00000435432.2_Missense_Mutation_p.A751T	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	892	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.A872T(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						ACTCATGGACGCCGAAAAGCG	0.502																																					p.A872T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2614A	18						.						83.0	80.0	81.0					18																	56057896		2039	4190	6229	54208876	SO:0001583	missense	23327	exon28			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2674G>A	18.37:g.56057896G>A	ENSP00000383199:p.Ala892Thr		54208876	NM_015277	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098376	0.56183	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.66	5.66	0.87406	HECT (4);	0.047041	0.85682	D	0.000000	T	0.42653	0.1212	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B	0.23128	0.015;0.009;0.005;0.08;0.019;0.015	B;B;B;B;B;B	0.21546	0.012;0.006;0.007;0.017;0.035;0.021	T	0.18681	-1.0329	10	0.24483	T	0.36	.	19.7559	0.96291	0.0:0.0:1.0:0.0	.	864;884;751;828;892;872	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	T	892;872;828;788;752;771;884;751;751;771	ENSP00000383199:A892T;ENSP00000372301:A872T;ENSP00000348847:A828T;ENSP00000256830:A788T;ENSP00000256832:A752T;ENSP00000411947:A771T;ENSP00000350569:A884T;ENSP00000393395:A751T;ENSP00000405440:A751T;ENSP00000389406:A771T	ENSP00000256830:A788T	A	+	1	0	NEDD4L	54208876	1.000000	0.71417	0.995000	0.50966	0.843000	0.47879	7.907000	0.87430	2.656000	0.90262	0.655000	0.94253	GCC		0.502	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		
CDH19	28513	broad.mit.edu	37	18	64235800	64235800	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr18:64235800A>C	ENST00000540086.1	-	3	589	c.343T>G	c.(343-345)Tta>Gta	p.L115V	CDH19_ENST00000262150.2_Missense_Mutation_p.L115V	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	223	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L115V(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGGGCTCTTAAGATGTAGAGG	0.423																																					p.L115V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T343G	18						.						139.0	134.0	135.0					18																	64235800		2203	4299	6502	62386780	SO:0001583	missense	28513	exon3			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.343T>G	18.37:g.64235800A>C	ENSP00000439593:p.Leu115Val		62386780	NM_021153	O15098	Missense_Mutation	SNP	ENST00000540086.1	37	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.514126	0.27123	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.72167	-0.63;-0.63	5.87	4.06	0.47325	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.81254	0.4784	M	0.77103	2.36	0.40968	D	0.98467	D;P	0.69078	0.997;0.832	D;P	0.69142	0.962;0.658	T	0.81662	-0.0831	10	0.66056	D	0.02	.	8.9152	0.35576	0.2319:0.0:0.7681:0.0	.	115;115	F5H1K0;Q9H159	.;CAD19_HUMAN	V	115;115;60	ENSP00000262150:L115V;ENSP00000439593:L115V	ENSP00000262150:L115V	L	-	1	2	CDH19	62386780	0.993000	0.37304	0.234000	0.24042	0.957000	0.61999	2.184000	0.42575	0.790000	0.33803	-0.462000	0.05337	TTA		0.423	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153	
PTPRM	5797	broad.mit.edu	37	18	7774263	7774263	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr18:7774263C>T	ENST00000332175.8	+	2	1227	c.190C>T	c.(190-192)Cca>Tca	p.P64S	PTPRM_ENST00000400060.4_Missense_Mutation_p.P64S|PTPRM_ENST00000580170.1_Missense_Mutation_p.P64S|PTPRM_ENST00000400053.4_Missense_Mutation_p.P2S	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	64	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.P64S(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)				TCCATGGATGCCATCAGGTTT	0.393																																					p.P64S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C190T	18						.						182.0	162.0	169.0					18																	7774263		2203	4300	6503	7764263	SO:0001583	missense	5797	exon2			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.190C>T	18.37:g.7774263C>T	ENSP00000331418:p.Pro64Ser		7764263	NM_002845	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261326	0.80246	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02085	4.46;4.46;4.54	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.064020	0.64402	D	0.000008	T	0.09642	0.0237	L	0.48362	1.52	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.71870	0.975;0.975	T	0.01675	-1.1298	10	0.56958	D	0.05	.	18.7818	0.91937	0.0:1.0:0.0:0.0	.	64;64	A7MBN1;P28827	.;PTPRM_HUMAN	S	64;64;2	ENSP00000331418:P64S;ENSP00000382933:P64S;ENSP00000382927:P2S	ENSP00000331418:P64S	P	+	1	0	PTPRM	7764263	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.852000	0.69488	2.795000	0.96236	0.655000	0.94253	CCA		0.393	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
PTPRM	5797	broad.mit.edu	37	18	8113645	8113645	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr18:8113645C>T	ENST00000332175.8	+	12	3055	c.2018C>T	c.(2017-2019)gCg>gTg	p.A673V	PTPRM_ENST00000444013.1_Missense_Mutation_p.A460V|PTPRM_ENST00000400060.4_Missense_Mutation_p.A673V|PTPRM_ENST00000580170.1_Missense_Mutation_p.A673V|PTPRM_ENST00000400053.4_Missense_Mutation_p.A611V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	673					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.A673V(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)				CTCCAAGCTGCGCAGCCTTTT	0.428																																					p.A673V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2018T	18						.						106.0	104.0	105.0					18																	8113645		2203	4300	6503	8103645	SO:0001583	missense	5797	exon12			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.2018C>T	18.37:g.8113645C>T	ENSP00000331418:p.Ala673Val		8103645	NM_002845	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851033	0.71719	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.46063	1.21;1.2;1.03;0.88	5.95	5.95	0.96441	Fibronectin, type III (1);	0.165983	0.53938	D	0.000041	T	0.35393	0.0930	L	0.38175	1.15	0.51767	D	0.999932	B;P;P	0.36438	0.002;0.553;0.553	B;B;B	0.28305	0.006;0.088;0.088	T	0.10132	-1.0643	10	0.41790	T	0.15	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	460;673;673	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	V	673;673;611;460	ENSP00000331418:A673V;ENSP00000382933:A673V;ENSP00000382927:A611V;ENSP00000387608:A460V	ENSP00000331418:A673V	A	+	2	0	PTPRM	8103645	1.000000	0.71417	0.970000	0.41538	0.988000	0.76386	7.487000	0.81328	2.817000	0.96982	0.563000	0.77884	GCG		0.428	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
ANKRD12	23253	broad.mit.edu	37	18	9255261	9255261	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr18:9255261delA	ENST00000262126.4	+	9	2236	c.1996delA	c.(1996-1998)aaafs	p.K667fs	ANKRD12_ENST00000383440.2_Frame_Shift_Del_p.K644fs|ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.K644fs	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	667						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E668fs*44(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						agaaaagcataaaaaagaaat	0.294																																					p.K666fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1996delA	18						.						44.0	49.0	47.0					18																	9255261		2192	4278	6470	9245261	SO:0001589	frameshift_variant	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.1996delA	18.37:g.9255261delA	ENSP00000262126:p.Lys667fs		9245261	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Frame_Shift_Del	DEL	ENST00000262126.4	37	CCDS11843.1																																																																																				0.294	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
RALBP1	10928	broad.mit.edu	37	18	9513167	9513167	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr18:9513167T>C	ENST00000019317.4	+	2	347	c.124T>C	c.(124-126)Tac>Cac	p.Y42H	RALBP1_ENST00000383432.3_Missense_Mutation_p.Y42H			Q15311	RBP1_HUMAN	ralA binding protein 1	42					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)	p.Y42H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	TCCTGGATTGTACCGCACTGG	0.552																																					p.Y42H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T124C	18						.						61.0	60.0	61.0					18																	9513167		2203	4300	6503	9503167	SO:0001583	missense	10928	exon2			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.124T>C	18.37:g.9513167T>C	ENSP00000019317:p.Tyr42His		9503167	NM_006788	D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.591699	0.86953	.	.	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	T;T	0.21734	1.99;1.99	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.37314	-0.9711	10	0.72032	D	0.01	-0.0647	15.1696	0.72862	0.0:0.0:0.0:1.0	.	42	Q15311	RBP1_HUMAN	H	42	ENSP00000019317:Y42H;ENSP00000372924:Y42H	ENSP00000019317:Y42H	Y	+	1	0	RALBP1	9503167	1.000000	0.71417	0.996000	0.52242	0.889000	0.51656	7.751000	0.85126	2.038000	0.60285	0.379000	0.24179	TAC		0.552	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788	
FHOD3	80206	broad.mit.edu	37	18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr18:34205516delC	ENST00000359247.4	+	10	1000	c.1000delC	c.(1000-1002)cccfs	p.P335fs	FHOD3_ENST00000257209.4_Frame_Shift_Del_p.P335fs|FHOD3_ENST00000591635.1_Frame_Shift_Del_p.H8fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.P335fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.P335fs	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	335	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.S336fs*138(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACGGAGCCACCCCCCAGTGG	0.677																																					p.P334fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1000delC	18						.						40.0	44.0	43.0					18																	34205516		2203	4299	6502	32459514	SO:0001589	frameshift_variant	80206	exon10			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1000delC	18.37:g.34205516delC	ENSP00000352186:p.Pro335fs		32459514	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	ENST00000359247.4	37																																																																																					0.677	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
FBXO15	201456	broad.mit.edu	37	18	71740947	71740947	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr18:71740947C>T	ENST00000419743.2	-	10	1361	c.1282G>A	c.(1282-1284)Gta>Ata	p.V428I	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000269500.5_Missense_Mutation_p.V352I	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	428						SCF ubiquitin ligase complex (GO:0019005)		p.V352I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AAAAGAGTTACGTCCATCATG	0.453																																					p.V352I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1054A	18						.						144.0	136.0	139.0					18																	71740947		2203	4300	6503	69891927	SO:0001583	missense	201456	exon10			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1282G>A	18.37:g.71740947C>T	ENSP00000393154:p.Val428Ile		69891927	NM_152676	B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	c	9.789	1.177400	0.21787	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.44881	0.91;0.91	5.9	-9.48	0.00591	.	1.198800	0.05694	N	0.592719	T	0.27731	0.0682	L	0.35723	1.085	0.09310	N	1	B;B	0.18968	0.032;0.01	B;B	0.09377	0.004;0.002	T	0.23190	-1.0195	10	0.45353	T	0.12	-12.5595	9.1899	0.37193	0.0:0.3665:0.2234:0.4101	.	428;352	B3KST3;Q8NCQ5	.;FBX15_HUMAN	I	352;428	ENSP00000269500:V352I;ENSP00000393154:V428I	ENSP00000269500:V352I	V	-	1	0	FBXO15	69891927	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-3.445000	0.00468	-2.728000	0.00385	-1.812000	0.00611	GTA		0.453	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676	
TATDN2	9797	broad.mit.edu	37	3	10312487	10312487	+	Missense_Mutation	SNP	C	C	T	rs576056241		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:10312487C>T	ENST00000287652.4	+	4	2672	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	TATDN2_ENST00000448281.2_Missense_Mutation_p.R541C|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	541					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.R541C(1)|p.R541S(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTGTGATCCCCGCACCCTGAC	0.493																																					p.R541C												.	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.C1621T	3						.						100.0	106.0	104.0					3																	10312487		2203	4300	6503	10287487	SO:0001583	missense	9797	exon4			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1621C>T	3.37:g.10312487C>T	ENSP00000287652:p.Arg541Cys		10287487	NM_014760	Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593791	0.46214	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.27402	1.67;1.67	5.0	1.95	0.26073	.	0.098253	0.38217	N	0.001774	T	0.40570	0.1122	L	0.43152	1.355	0.09310	N	0.999999	D	0.76494	0.999	D	0.65443	0.935	T	0.17258	-1.0375	10	0.87932	D	0	-13.1926	8.3749	0.32436	0.4944:0.3701:0.1355:0.0	.	541	Q93075	TATD2_HUMAN	C	541	ENSP00000287652:R541C;ENSP00000408736:R541C	ENSP00000287652:R541C	R	+	1	0	TATDN2	10287487	0.028000	0.19301	0.830000	0.32933	0.870000	0.49936	0.238000	0.18004	0.138000	0.18790	0.644000	0.83932	CGC		0.493	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203	
ABI3BP	25890	broad.mit.edu	37	3	100569567	100569567	+	Missense_Mutation	SNP	G	G	A	rs377450718		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:100569567G>A	ENST00000284322.5	-	14	1346	c.1237C>T	c.(1237-1239)Cgt>Tgt	p.R413C	ABI3BP_ENST00000471714.1_Missense_Mutation_p.R462C|ABI3BP_ENST00000495063.1_Missense_Mutation_p.R462C	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	413					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.R413C(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCCAGAATACGATCACTTGTT	0.343																																					p.R413C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1237T	3						.	G	CYS/ARG	0,3622		0,0,1811	129.0	127.0	127.0		1237	1.4	0.7	3		127	1,8133		0,1,4066	no	missense	ABI3BP	NM_015429.3	180	0,1,5877	AA,AG,GG		0.0123,0.0,0.0085	possibly-damaging	413/1076	100569567	1,11755	1811	4067	5878	102052257	SO:0001583	missense	25890	exon14			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1237C>T	3.37:g.100569567G>A	ENSP00000284322:p.Arg413Cys		102052257	NM_015429	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.35|14.35	2.510692|2.510692	0.44660|0.44660	0.0|0.0	1.23E-4|1.23E-4	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063|ENST00000459682	T;T;T|.	0.57436|.	0.4;0.4;0.4|.	5.86|5.86	1.4|1.4	0.22301|0.22301	.|.	0.777035|.	0.12965|.	N|.	0.424639|.	T|T	0.36799|0.36799	0.0980|0.0980	N|N	0.22421|0.22421	0.69|0.69	0.53688|0.53688	D|D	0.99997|0.99997	P;P|.	0.47350|.	0.894;0.876|.	B;B|.	0.41723|.	0.365;0.183|.	T|T	0.06409|0.06409	-1.0828|-1.0828	10|5	0.66056|.	D|.	0.02|.	0.076|0.076	4.999|4.999	0.14255|0.14255	0.3437:0.1561:0.5002:0.0|0.3437:0.1561:0.5002:0.0	.|.	462;413|.	Q5JPC9;Q7Z7G0|.	.;TARSH_HUMAN|.	C|L	462;413;462|38	ENSP00000420524:R462C;ENSP00000284322:R413C;ENSP00000433993:R462C|.	ENSP00000284322:R413C|.	R|S	-|-	1|2	0|0	ABI3BP|ABI3BP	102052257|102052257	0.998000|0.998000	0.40836|0.40836	0.688000|0.688000	0.30117|0.30117	0.889000|0.889000	0.51656|0.51656	1.030000|1.030000	0.30153|0.30153	0.438000|0.438000	0.26450|0.26450	-0.182000|-0.182000	0.12963|0.12963	CGT|TCG		0.343	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		
CEP97	79598	broad.mit.edu	37	3	101481366	101481366	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:101481366T>A	ENST00000341893.3	+	10	2607	c.1855T>A	c.(1855-1857)Ttt>Att	p.F619I	CEP97_ENST00000327230.4_Missense_Mutation_p.F619I|CEP97_ENST00000494050.1_Missense_Mutation_p.F560I			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	619	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.F619I(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TATTAAAAAATTTGTACAAGA	0.333																																					p.F619I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1855A	3						.						75.0	79.0	77.0					3																	101481366		2203	4297	6500	102964056	SO:0001583	missense	79598	exon10			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1855T>A	3.37:g.101481366T>A	ENSP00000342510:p.Phe619Ile		102964056	NM_024548	B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935430	0.52866	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.49720	0.86;0.81;0.77	5.56	-2.14	0.07123	.	0.301981	0.37136	N	0.002226	T	0.31857	0.0810	L	0.57536	1.79	0.28846	N	0.896345	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.09596	-1.0667	10	0.34782	T	0.22	-0.8876	0.957	0.01387	0.367:0.1601:0.3182:0.1548	.	560;619	E9PG22;Q8IW35	.;CEP97_HUMAN	I	619;619;560	ENSP00000342510:F619I;ENSP00000325881:F619I;ENSP00000418185:F560I	ENSP00000325881:F619I	F	+	1	0	CEP97	102964056	0.983000	0.35010	0.643000	0.29450	0.989000	0.77384	0.369000	0.20416	-0.252000	0.09528	0.477000	0.44152	TTT		0.333	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548	
CFAP44	55779	broad.mit.edu	37	3	113115475	113115475	+	Missense_Mutation	SNP	G	G	A	rs113101974		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:113115475G>A	ENST00000295868.2	-	14	1831	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000393845.2_Missense_Mutation_p.R557W	NM_018338.3	NP_060808.2												p.R557W(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATTTTCTTCCGTCCCGCAAAA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		17386	0.0		0.0	False		,,,				2504	0.001				p.R557W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1669T	3						.						102.0	103.0	103.0					3																	113115475		2203	4300	6503	114598165	SO:0001583	missense	55779	exon14																														ENST00000295868.2:c.1669C>T	3.37:g.113115475G>A	ENSP00000295868:p.Arg557Trp		114598165	NM_001164496		Missense_Mutation	SNP	ENST00000295868.2	37	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372657	0.42003	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.65916	-0.18;0.65	5.39	2.38	0.29361	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.70448	0.3225	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.73052	-0.4104	9	0.66056	D	0.02	.	14.534	0.67947	0.0:0.0:0.6229:0.3771	.	557	Q96MT7	WDR52_HUMAN	W	557	ENSP00000377428:R557W;ENSP00000295868:R557W	ENSP00000295868:R557W	R	-	1	2	WDR52	114598165	0.999000	0.42202	1.000000	0.80357	0.067000	0.16453	2.011000	0.40922	0.725000	0.32318	0.655000	0.94253	CGG		0.393	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3		
KIAA1407	57577	broad.mit.edu	37	3	113724766	113724766	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:113724766C>A	ENST00000295878.3	-	10	1603	c.1457G>T	c.(1456-1458)aGc>aTc	p.S486I	KIAA1407_ENST00000545063.1_Missense_Mutation_p.S317I	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	486								p.S486I(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ACAACCACTGCTTCCCAAGGG	0.493																																					p.S486I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1457T	3						.						102.0	105.0	104.0					3																	113724766		2203	4300	6503	115207456	SO:0001583	missense	57577	exon10			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1457G>T	3.37:g.113724766C>A	ENSP00000295878:p.Ser486Ile		115207456	NM_020817	B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469506	0.43839	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.47528	1.42;0.84;0.85	5.23	-0.947	0.10382	.	0.979750	0.08452	N	0.943838	T	0.41858	0.1177	M	0.63428	1.95	0.09310	N	1	P;P;P	0.45078	0.85;0.85;0.85	B;B;B	0.43575	0.424;0.424;0.424	T	0.31223	-0.9951	10	0.46703	T	0.11	.	1.9504	0.03365	0.1153:0.2612:0.3391:0.2845	.	473;362;486	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	I	486;317;473	ENSP00000295878:S486I;ENSP00000446381:S317I;ENSP00000418099:S473I	ENSP00000295878:S486I	S	-	2	0	KIAA1407	115207456	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.069000	0.03444	-0.399000	0.07668	0.655000	0.94253	AGC		0.493	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	
ZBTB20	26137	broad.mit.edu	37	3	114069920	114069920	+	Silent	SNP	G	G	A	rs367805942		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:114069920G>A	ENST00000474710.1	-	4	1183	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Silent_p.D262D|ZBTB20_ENST00000393785.2_Silent_p.D262D|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Silent_p.D262D|ZBTB20_ENST00000481632.1_Silent_p.D262D|ZBTB20_ENST00000357258.3_Silent_p.D262D|ZBTB20_ENST00000471418.1_Silent_p.D262D	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	335						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.D262D(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)		AGTCGTAATCGTCCTCCATCT	0.617																																					p.D262D	NSCLC(69;748 1344 9802 11203 30933)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C786T	3						.	G	,,,,,,	0,4406		0,0,2203	146.0	113.0	125.0		1005,786,786,786,786,786,786	0.6	1.0	3		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZBTB20	NM_001164342.1,NM_001164343.1,NM_001164344.1,NM_001164345.1,NM_001164346.1,NM_001164347.1,NM_015642.4	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	335/742,262/669,262/669,262/669,262/669,262/669,262/669	114069920	1,13005	2203	4300	6503	115552610	SO:0001819	synonymous_variant	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.1005C>T	3.37:g.114069920G>A			115552610	NM_001164343	Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	CCDS54626.1																																																																																				0.617	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642	
CASR	846	broad.mit.edu	37	3	121981046	121981046	+	Silent	SNP	G	G	A	rs200898785	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:121981046G>A	ENST00000490131.1	+	4	1536	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S	CASR_ENST00000498619.1_Silent_p.S388S|CASR_ENST00000296154.5_Silent_p.S388S	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	388					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.S388S(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCAACAGCTCGACAGCCTTCC	0.488													G|||	4	0.000798722	0.0	0.0	5008	,	,		21880	0.0		0.0	False		,,,				2504	0.0041				p.S388S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1164A	3						.						106.0	96.0	99.0					3																	121981046		2203	4300	6503	123463736	SO:0001819	synonymous_variant	846	exon4			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1164G>A	3.37:g.121981046G>A			123463736	NM_000388	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	CCDS3010.1																																																																																				0.488	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
ADCY5	111	broad.mit.edu	37	3	123038662	123038662	+	Silent	SNP	G	G	A	rs150253262	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:123038662G>A	ENST00000462833.1	-	10	3327	c.2115C>T	c.(2113-2115)aaC>aaT	p.N705N	ADCY5_ENST00000309879.5_Silent_p.N355N|ADCY5_ENST00000491190.1_Silent_p.N338N	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	705					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.N705N(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)		TCTCCTGGGCGTTCCTGGGGA	0.632																																					p.N705N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2115T	3						.	G	,	1,4405	2.1+/-5.4	0,1,2202	74.0	59.0	65.0		1065,2115	-3.6	0.9	3	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ADCY5	NM_001199642.1,NM_183357.2	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	355/912,705/1262	123038662	3,13003	2203	4300	6503	124521352	SO:0001819	synonymous_variant	111	exon10			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.2115C>T	3.37:g.123038662G>A			124521352	NM_183357	B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	CCDS3022.1																																																																																				0.632	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048	
TMEM40	55287	broad.mit.edu	37	3	12785415	12785415	+	Silent	SNP	G	G	A	rs374102262	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:12785415G>A	ENST00000314124.7	-	4	641	c.285C>T	c.(283-285)caC>caT	p.H95H	TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000264728.8_Silent_p.H95H|TMEM40_ENST00000435218.2_Intron|TMEM40_ENST00000431022.2_Silent_p.H111H|TMEM40_ENST00000476331.1_5'Flank	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	95						integral component of membrane (GO:0016021)		p.H95H(1)		breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						AGCCGTTCCCGTGGGGGTATC	0.542													G|||	2	0.000399361	0.0	0.0	5008	,	,		19446	0.002		0.0	False		,,,				2504	0.0				p.H95H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C285T	3						.						81.0	79.0	80.0					3																	12785415		2203	4300	6503	12760415	SO:0001819	synonymous_variant	55287	exon4			BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.285C>T	3.37:g.12785415G>A			12760415	NM_018306	C9JID5|Q8NAL4|Q9NUZ4	Silent	SNP	ENST00000314124.7	37	CCDS2613.1																																																																																				0.542	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306	
SLC41A3	54946	broad.mit.edu	37	3	125731529	125731529	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:125731529C>T	ENST00000315891.6	-	9	1272	c.1034G>A	c.(1033-1035)aGt>aAt	p.S345N	SLC41A3_ENST00000346785.5_Missense_Mutation_p.S309N|SLC41A3_ENST00000383598.2_Missense_Mutation_p.S319N|SLC41A3_ENST00000360370.4_Missense_Mutation_p.S345N|SLC41A3_ENST00000508835.1_Missense_Mutation_p.S228N	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	345						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.S319N(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		GCCAGGTGCACTCCACATGTG	0.517																																					p.S345N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1034A	3						.						158.0	148.0	151.0					3																	125731529		2203	4300	6503	127214219	SO:0001583	missense	54946	exon9				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1034G>A	3.37:g.125731529C>T	ENSP00000326070:p.Ser345Asn		127214219	NM_001008485	A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471295	0.63625	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.43	5.43	0.79202	MgtE magnesium transporter, integral membrane (1);	0.113256	0.85682	D	0.000000	T	0.57636	0.2067	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;1.0;0.999;0.998	D;D;D;D;D	0.74348	0.957;0.975;0.983;0.982;0.928	T	0.55724	-0.8096	10	0.25106	T	0.35	-0.001	16.7188	0.85405	0.0:1.0:0.0:0.0	.	228;345;309;345;319	B7Z4Y2;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;S41A3_HUMAN;.	N	345;309;319;336;345;228	ENSP00000353533:S345N;ENSP00000264471:S309N;ENSP00000373092:S319N;ENSP00000326070:S345N;ENSP00000427409:S228N	ENSP00000326070:S345N	S	-	2	0	SLC41A3	127214219	1.000000	0.71417	0.994000	0.49952	0.044000	0.14063	6.827000	0.75303	2.541000	0.85698	0.591000	0.81541	AGT		0.517	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836	
CAND2	23066	broad.mit.edu	37	3	12845082	12845082	+	Missense_Mutation	SNP	G	G	A	rs530014195	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:12845082G>A	ENST00000456430.2	+	2	205	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	CAND2_ENST00000295989.5_Missense_Mutation_p.R55Q	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	55					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.R55Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATGCTGCTCCGGCTCCTGGAG	0.612													G|||	2	0.000399361	0.0	0.0014	5008	,	,		6133	0.0		0.001	False		,,,				2504	0.0				p.R55Q	GBM(43;676 868 1633 6395 37496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G164A	3						.						55.0	62.0	59.0					3																	12845082		2201	4300	6501	12820082	SO:0001583	missense	23066	exon2				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.164G>A	3.37:g.12845082G>A	ENSP00000387641:p.Arg55Gln		12820082	NM_001162499	B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316136	0.40996	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.06849	3.25;3.25	4.66	-0.118	0.13547	Armadillo-like helical (1);Armadillo-type fold (1);	0.314499	0.27504	N	0.019074	T	0.04998	0.0134	L	0.33093	0.98	0.47778	D	0.999511	B;B	0.29253	0.155;0.239	B;B	0.23018	0.043;0.021	T	0.46707	-0.9172	10	0.18710	T	0.47	-15.3241	7.6699	0.28453	0.579:0.0:0.421:0.0	.	55;55	O75155;O75155-2	CAND2_HUMAN;.	Q	55	ENSP00000295989:R55Q;ENSP00000387641:R55Q	ENSP00000295989:R55Q	R	+	2	0	CAND2	12820082	0.998000	0.40836	0.096000	0.21009	0.905000	0.53344	2.351000	0.44071	0.047000	0.15862	-0.136000	0.14681	CGG		0.612	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617	
CCDC37	348807	broad.mit.edu	37	3	126137555	126137555	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:126137555C>T	ENST00000352312.1	+	7	687	c.588C>T	c.(586-588)gaC>gaT	p.D196D	CCDC37_ENST00000393425.1_Silent_p.D197D|CCDC37_ENST00000505024.1_Silent_p.D197D	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	196								p.D196D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TGGAGAAGGACGCCGCCTTGT	0.652																																					p.D196D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C588T	3						.						47.0	51.0	49.0					3																	126137555		2197	4296	6493	127620245	SO:0001819	synonymous_variant	348807	exon7			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.588C>T	3.37:g.126137555C>T			127620245	NM_182628	D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	CCDS3037.1																																																																																				0.652	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628	
PLXND1	23129	broad.mit.edu	37	3	129281777	129281777	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:129281777C>T	ENST00000324093.4	-	27	4856	c.4678G>A	c.(4678-4680)Gtg>Atg	p.V1560M	PLXND1_ENST00000393239.1_Missense_Mutation_p.V1560M	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1560					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.V1560M(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGAAGGACACGTTCAGGTTC	0.602																																					p.V1560M	Ovarian(97;366 1484 3738 22084 39045)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4678A	3						.						71.0	59.0	63.0					3																	129281777		2203	4300	6503	130764467	SO:0001583	missense	23129	exon27			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4678G>A	3.37:g.129281777C>T	ENSP00000317128:p.Val1560Met		130764467	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994504	0.93167	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.14516	2.5;2.5	5.38	5.38	0.77491	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.232708	0.36034	N	0.002828	T	0.45094	0.1325	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	T	0.50659	-0.8802	10	0.87932	D	0	.	19.1508	0.93487	0.0:1.0:0.0:0.0	.	155;1560	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	M	1560	ENSP00000317128:V1560M;ENSP00000376931:V1560M	ENSP00000317128:V1560M	V	-	1	0	PLXND1	130764467	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.779000	0.85648	2.524000	0.85096	0.561000	0.74099	GTG		0.602	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
CPNE4	131034	broad.mit.edu	37	3	131261532	131261532	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:131261532C>T	ENST00000512055.1	-	19	3534	c.1408G>A	c.(1408-1410)Gtg>Atg	p.V470M	CPNE4_ENST00000502818.1_Missense_Mutation_p.V488M|CPNE4_ENST00000512332.1_Missense_Mutation_p.V488M|CPNE4_ENST00000511604.1_Missense_Mutation_p.V470M|CPNE4_ENST00000429747.1_Missense_Mutation_p.V470M			Q96A23	CPNE4_HUMAN	copine IV	470	VWFA.					extracellular vesicular exosome (GO:0070062)		p.V470M(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CCTACTCCCACGATGATGACT	0.552																																					p.V470M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1408A	3						.						169.0	142.0	151.0					3																	131261532		2203	4300	6503	132744222	SO:0001583	missense	131034	exon15			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1408G>A	3.37:g.131261532C>T	ENSP00000421705:p.Val470Met		132744222	NM_130808	D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951986	0.92660	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.54	5.54	0.83059	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	D	0.000000	T	0.69024	0.3065	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.78386	-0.2224	10	0.87932	D	0	-21.4172	19.563	0.95380	0.0:1.0:0.0:0.0	.	488;470	Q96A23-2;Q96A23	.;CPNE4_HUMAN	M	470;470;488;470;488	ENSP00000421705:V470M;ENSP00000411904:V470M;ENSP00000424853:V488M;ENSP00000423811:V470M;ENSP00000421646:V488M	ENSP00000411904:V470M	V	-	1	0	CPNE4	132744222	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.783000	0.85696	2.619000	0.88677	0.650000	0.86243	GTG		0.552	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808	
DNAJC13	23317	broad.mit.edu	37	3	132172153	132172153	+	Silent	SNP	G	G	A	rs528705790	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:132172153G>A	ENST00000260818.6	+	7	797	c.549G>A	c.(547-549)gcG>gcA	p.A183A	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	183					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.A183A(2)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATTTATTTGCGTCAGAGCAAA	0.348													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17341	0.0		0.0	False		,,,				2504	0.001				p.A183A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G549A	3						.						36.0	37.0	37.0					3																	132172153		2201	4300	6501	133654843	SO:0001819	synonymous_variant	23317	exon7			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.549G>A	3.37:g.132172153G>A			133654843	NM_015268	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	CCDS33857.1																																																																																				0.348	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
C3orf36	80111	broad.mit.edu	37	3	133647307	133647307	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:133647307A>C	ENST00000408895.2	-	1	1349	c.341T>G	c.(340-342)cTc>cGc	p.L114R		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	114								p.L114R(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GAGGGCGCAGAGTGGGTGGTT	0.657																																					p.L114R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T341G	3						.						30.0	33.0	32.0					3																	133647307		2203	4300	6503	135129997	SO:0001583	missense	80111	exon1			AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.341T>G	3.37:g.133647307A>C	ENSP00000386219:p.Leu114Arg		135129997	NM_025041	Q3SXR3|Q9H6K8	Missense_Mutation	SNP	ENST00000408895.2	37	CCDS3083.1	.	.	.	.	.	.	.	.	.	.	A	9.916	1.210807	0.22289	.	.	ENSG00000221972	ENST00000408895	.	.	.	2.06	-0.313	0.12754	.	.	.	.	.	T	0.09113	0.0225	N	0.08118	0	0.09310	N	1	P	0.46020	0.871	B	0.34346	0.18	T	0.18871	-1.0323	8	0.87932	D	0	.	3.4456	0.07480	0.4026:0.3871:0.2103:0.0	.	114	Q3SXR2	CC036_HUMAN	R	114	.	ENSP00000386219:L114R	L	-	2	0	C3orf36	135129997	0.000000	0.05858	0.003000	0.11579	0.072000	0.16883	-0.623000	0.05546	-0.080000	0.12685	0.260000	0.18958	CTC		0.657	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025041	
GRIP2	80852	broad.mit.edu	37	3	14536472	14536472	+	RNA	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:14536472C>T	ENST00000273083.3	-	0	2913							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.R951Q(1)		endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AAAGTCATGCCGCATGGGGTC	0.597																																					p.G1047S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3139A	3						.						102.0	108.0	106.0					3																	14536472		2092	4208	6300	14511476			80852	exon24			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14536472C>T			14511476	NM_001080423	Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37																																																																																					0.597	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423	
PLS1	5357	broad.mit.edu	37	3	142389951	142389951	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:142389951G>A	ENST00000337777.3	+	4	564	c.351G>A	c.(349-351)caG>caA	p.Q117Q	PLS1_ENST00000457734.2_Silent_p.Q117Q|PLS1_ENST00000497002.1_Silent_p.Q117Q|RN7SKP25_ENST00000362449.1_RNA	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	117	Actin-binding 1.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q117Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AGGGCACACAGCATTCTTATT	0.353																																					p.Q117Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G351A	3						.						191.0	183.0	186.0					3																	142389951		2203	4299	6502	143872641	SO:0001819	synonymous_variant	5357	exon4			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.351G>A	3.37:g.142389951G>A			143872641	NM_002670	A8K2Q1|D3DNG3|Q8NEG6	Silent	SNP	ENST00000337777.3	37	CCDS3125.1																																																																																				0.353	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670	
TM4SF4	7104	broad.mit.edu	37	3	149216547	149216547	+	Missense_Mutation	SNP	G	G	A	rs367773065		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:149216547G>A	ENST00000305354.4	+	4	1344	c.440G>A	c.(439-441)cGa>cAa	p.R147Q		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	147					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)		p.R147Q(2)		large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AACAAGTGCCGAGAGCCTCTC	0.483																																					p.R147Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G440A	3						.	G	GLN/ARG	0,3854		0,0,1927	92.0	93.0	92.0		440	-11.8	0.0	3		92	1,8263		0,1,4131	no	missense	TM4SF4	NM_004617.3	43	0,1,6058	AA,AG,GG		0.0121,0.0,0.0083	benign	147/203	149216547	1,12117	1927	4132	6059	150699237	SO:0001583	missense	7104	exon4				CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"""transmembrane 4 superfamily member 4"""			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.440G>A	3.37:g.149216547G>A	ENSP00000305852:p.Arg147Gln		150699237	NM_004617	B2RDA4	Missense_Mutation	SNP	ENST00000305354.4	37	CCDS46932.1	.	.	.	.	.	.	.	.	.	.	G	4.644	0.119685	0.08881	0.0	1.21E-4	ENSG00000169903	ENST00000305354	T	0.29655	1.56	5.9	-11.8	0.00035	.	4.093850	0.00166	N	0.000008	T	0.07638	0.0192	N	0.01505	-0.83	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21042	-1.0257	10	0.12103	T	0.63	-6.939	2.8524	0.05562	0.1187:0.2483:0.1436:0.4894	.	147	P48230	T4S4_HUMAN	Q	147	ENSP00000305852:R147Q	ENSP00000305852:R147Q	R	+	2	0	TM4SF4	150699237	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.430000	0.00066	-4.682000	0.00036	-0.295000	0.09555	CGA		0.483	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1		
P2RY12	64805	broad.mit.edu	37	3	151056087	151056087	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:151056087C>T	ENST00000302632.3	-	3	846	c.547G>A	c.(547-549)Ggt>Agt	p.G183S	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	183					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.G183S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	CAGACTAGACCGAACTCTGAT	0.353																																					p.G183S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G547A	3						.						101.0	98.0	99.0					3																	151056087		2203	4300	6503	152538777	SO:0001583	missense	64805	exon3			AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.547G>A	3.37:g.151056087C>T	ENSP00000307259:p.Gly183Ser		152538777	NM_022788	D3DNJ5|Q546J7	Missense_Mutation	SNP	ENST00000302632.3	37	CCDS3159.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033469	0.93575	.	.	ENSG00000169313	ENST00000302632	T	0.35973	1.28	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.048000	0.85682	D	0.000000	T	0.55862	0.1947	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.42258	-0.9462	10	0.14656	T	0.56	-15.7289	19.6002	0.95559	0.0:1.0:0.0:0.0	.	183	Q9H244	P2Y12_HUMAN	S	183	ENSP00000307259:G183S	ENSP00000307259:G183S	G	-	1	0	P2RY12	152538777	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.445000	0.80570	2.691000	0.91804	0.655000	0.94253	GGT		0.353	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1		
P2RY1	5028	broad.mit.edu	37	3	152554449	152554449	+	Missense_Mutation	SNP	C	C	A	rs145570287		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:152554449C>A	ENST00000305097.3	+	1	1714	c.878C>A	c.(877-879)cCa>cAa	p.P293Q	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	293					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.P293Q(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TTTCAGACCCCAGCAATGTGT	0.448																																					p.P293Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C878A	3						.						110.0	112.0	111.0					3																	152554449		2203	4300	6503	154037139	SO:0001583	missense	5028	exon1			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.878C>A	3.37:g.152554449C>A	ENSP00000304767:p.Pro293Gln		154037139	NM_002563		Missense_Mutation	SNP	ENST00000305097.3	37	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531249	0.45073	.	.	ENSG00000169860	ENST00000305097	T	0.69685	-0.42	5.58	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.061993	0.64402	D	0.000003	T	0.56848	0.2013	L	0.31752	0.955	0.80722	D	1	B	0.30406	0.278	B	0.36504	0.226	T	0.50346	-0.8839	10	0.12430	T	0.62	.	15.3449	0.74327	0.0:0.8599:0.1401:0.0	.	293	P47900	P2RY1_HUMAN	Q	293	ENSP00000304767:P293Q	ENSP00000304767:P293Q	P	+	2	0	P2RY1	154037139	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.856000	0.62932	1.311000	0.45024	0.563000	0.77884	CCA		0.448	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563	
DHX36	170506	broad.mit.edu	37	3	154027489	154027489	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:154027489C>T	ENST00000496811.1	-	5	846	c.766G>A	c.(766-768)Gct>Act	p.A256T	DHX36_ENST00000308361.6_Missense_Mutation_p.A256T|DHX36_ENST00000329463.5_Missense_Mutation_p.A256T|DHX36_ENST00000544526.1_Missense_Mutation_p.A256T	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	256	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.A256T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATTCTGCAAGCAGATCCTTTT	0.338																																					p.A256T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G766A	3						.						91.0	90.0	91.0					3																	154027489		2202	4299	6501	155510183	SO:0001583	missense	170506	exon5			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.766G>A	3.37:g.154027489C>T	ENSP00000417078:p.Ala256Thr		155510183	NM_001114397	B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	C	8.732	0.916807	0.17907	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;4.13	5.26	2.35	0.29111	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.646123	0.16327	N	0.219289	T	0.03783	0.0107	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.11329	0.004;0.004;0.006	T	0.45614	-0.9249	10	0.08381	T	0.77	.	5.7753	0.18275	0.5043:0.3458:0.0:0.1499	.	256;256;256	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	T	256;256;256;256;170	ENSP00000417078:A256T;ENSP00000309296:A256T;ENSP00000444247:A256T;ENSP00000330113:A256T;ENSP00000419862:A170T	ENSP00000309296:A256T	A	-	1	0	DHX36	155510183	0.041000	0.20044	0.891000	0.34965	0.962000	0.63368	0.397000	0.20883	0.591000	0.29711	-0.188000	0.12872	GCT		0.338	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865	
TNIK	23043	broad.mit.edu	37	3	170843805	170843805	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:170843805G>A	ENST00000436636.2	-	17	2253	c.1909C>T	c.(1909-1911)Cgc>Tgc	p.R637C	TNIK_ENST00000284483.8_Missense_Mutation_p.R637C|TNIK_ENST00000357327.5_Missense_Mutation_p.R608C|TNIK_ENST00000470834.1_Missense_Mutation_p.R608C|TNIK_ENST00000538048.1_Missense_Mutation_p.R582C|TNIK_ENST00000341852.6_Missense_Mutation_p.R553C|TNIK_ENST00000460047.1_Missense_Mutation_p.R582C|TNIK_ENST00000488470.1_Missense_Mutation_p.R582C|TNIK_ENST00000369326.5_Missense_Mutation_p.R608C|TNIK_ENST00000475336.1_Missense_Mutation_p.R553C	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	637	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R637C(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)			GAGTTCTGGCGTGGCATCTCC	0.572																																					p.R553C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1657T	3						.						85.0	87.0	87.0					3																	170843805		1923	4135	6058	172326499	SO:0001583	missense	23043	exon15			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.1909C>T	3.37:g.170843805G>A	ENSP00000399511:p.Arg637Cys		172326499	NM_001161565	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504781	0.85176	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.74947	0.88;0.88;-0.85;-0.82;0.88;-0.86;0.88;-0.89;-0.84;0.88	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.82733	0.5101	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.79108	0.992;0.975;0.992;0.992;0.988;0.975;0.992;0.972	T	0.82575	-0.0389	10	0.52906	T	0.07	.	14.6057	0.68478	0.0:0.0:0.8199:0.1801	.	553;608;582;553;637;608;582;637	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	C	637;608;582;553;637;553;608;582;582;608	ENSP00000399511:R637C;ENSP00000358332:R608C;ENSP00000443278:R582C;ENSP00000345352:R553C;ENSP00000284483:R637C;ENSP00000418156:R553C;ENSP00000349880:R608C;ENSP00000418916:R582C;ENSP00000418378:R582C;ENSP00000419990:R608C	ENSP00000284483:R637C	R	-	1	0	TNIK	172326499	1.000000	0.71417	0.979000	0.43373	0.973000	0.67179	7.040000	0.76551	2.761000	0.94854	0.655000	0.94253	CGC		0.572	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
FNDC3B	64778	broad.mit.edu	37	3	171969255	171969255	+	Silent	SNP	C	C	T	rs151151218		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:171969255C>T	ENST00000336824.4	+	6	813	c.714C>T	c.(712-714)agC>agT	p.S238S	FNDC3B_ENST00000416957.1_Silent_p.S238S|FNDC3B_ENST00000415807.2_Silent_p.S238S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	238	Poly-Gly.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.S238S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GAGGCGGCAGCGGTAGTGGTC	0.498																																					p.S238S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C714T	3						.						71.0	73.0	72.0					3																	171969255		2203	4300	6503	173451949	SO:0001819	synonymous_variant	64778	exon6			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.714C>T	3.37:g.171969255C>T			173451949	NM_001135095	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	ENST00000336824.4	37	CCDS3217.1																																																																																				0.498	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763	
PIK3CA	5290	broad.mit.edu	37	3	178948079	178948079	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:178948079C>T	ENST00000263967.3	+	20	3008	c.2851C>T	c.(2851-2853)Cgt>Tgt	p.R951C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	951	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.R951C(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TAAACGAGAACGTGTGCCATT	0.328		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.R951C	Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2851T	3						.						81.0	79.0	80.0					3																	178948079		1811	4074	5885	180430773	SO:0001583	missense	5290	exon20				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2851C>T	3.37:g.178948079C>T	ENSP00000263967:p.Arg951Cys		180430773	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178810	0.78564	.	.	ENSG00000121879	ENST00000263967	T	0.76968	-1.06	4.99	4.99	0.66335	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.90424	0.7002	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92390	0.5920	10	0.72032	D	0.01	-12.5645	13.5798	0.61896	0.1556:0.8444:0.0:0.0	.	951	P42336	PK3CA_HUMAN	C	951	ENSP00000263967:R951C	ENSP00000263967:R951C	R	+	1	0	PIK3CA	180430773	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.502000	0.66956	2.459000	0.83118	0.585000	0.79938	CGT		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
MCF2L2	23101	broad.mit.edu	37	3	183097194	183097194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:183097194G>A	ENST00000328913.3	-	3	463	c.166C>T	c.(166-168)Cga>Tga	p.R56*	MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.R56*|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.R56*|MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.R56*	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	56	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R56*(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)			TCCTCCCCTCGGCCTCCTGCA	0.498																																					p.R56X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C166T	3						.						69.0	62.0	64.0					3																	183097194		2203	4300	6503	184579888	SO:0001587	stop_gained	23101	exon3			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.166C>T	3.37:g.183097194G>A	ENSP00000328118:p.Arg56*		184579888	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Nonsense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535641	0.45176	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362;ENST00000482017	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5619	0.50782	0.0:0.0:0.7144:0.2855	.	.	.	.	X	56;56;56;56;28	.	ENSP00000328118:R56X	R	-	1	2	MCF2L2	184579888	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	3.266000	0.51569	2.580000	0.87095	0.655000	0.94253	CGA		0.498	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
DVL3	1857	broad.mit.edu	37	3	183882366	183882366	+	Missense_Mutation	SNP	G	G	A	rs146812695	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:183882366G>A	ENST00000313143.3	+	4	688	c.440G>A	c.(439-441)cGc>cAc	p.R147H	DVL3_ENST00000462665.1_3'UTR|DVL3_ENST00000431765.1_Missense_Mutation_p.R147H|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	147					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)	p.R147H(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GAGCGGCCACGCCGGAGGGAT	0.607													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18772	0.0		0.0	False		,,,				2504	0.0				p.R147H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G440A	3						.	G	HIS/ARG	0,4406		0,0,2203	37.0	37.0	37.0		440	4.6	1.0	3	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DVL3	NM_004423.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	147/717	183882366	1,13005	2203	4300	6503	185365060	SO:0001583	missense	1857	exon4			D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.440G>A	3.37:g.183882366G>A	ENSP00000316054:p.Arg147His		185365060	NM_004423	B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	CCDS3253.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.97	2.096874	0.37048	0.0	1.16E-4	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765;ENST00000423300	T;T;T	0.06933	3.67;3.66;3.24	4.58	4.58	0.56647	Dishevelled protein domain (1);	0.102804	0.64402	D	0.000005	T	0.24967	0.0606	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.00536	-1.1683	10	0.37606	T	0.19	-17.5236	17.9371	0.89015	0.0:0.0:1.0:0.0	.	147;147	B4E3E5;Q92997	.;DVL3_HUMAN	H	147;147;147;45	ENSP00000316054:R147H;ENSP00000405885:R147H;ENSP00000393849:R45H	ENSP00000316054:R147H	R	+	2	0	DVL3	185365060	1.000000	0.71417	0.997000	0.53966	0.059000	0.15707	7.244000	0.78228	2.542000	0.85734	0.650000	0.86243	CGC		0.607	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423	
CLCN2	1181	broad.mit.edu	37	3	184075230	184075230	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:184075230C>T	ENST00000265593.4	-	8	989	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	CLCN2_ENST00000457512.1_Missense_Mutation_p.R273Q|CLCN2_ENST00000344937.7_Missense_Mutation_p.R273Q|CLCN2_ENST00000434054.2_Missense_Mutation_p.R229Q|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000423355.2_5'UTR|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	273					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.R273Q(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CCAGTAGTTCCGCACTGCAAA	0.627																																					p.R273Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G818A	3						.						90.0	100.0	97.0					3																	184075230		2203	4300	6503	185557924	SO:0001583	missense	1181	exon8			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.818G>A	3.37:g.184075230C>T	ENSP00000265593:p.Arg273Gln		185557924	NM_004366	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	25.3	4.624806	0.87560	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	5.53	4.64	0.57946	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96744	0.8937	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.987;1.0;0.993	D;D;P;D;D	0.91635	0.998;0.999;0.858;0.985;0.925	D	0.97155	0.9834	10	0.87932	D	0	-10.7105	15.1004	0.72269	0.0:0.8573:0.1427:0.0	.	273;229;273;273;273	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	Q	273;273;229;273	ENSP00000265593:R273Q;ENSP00000345056:R273Q;ENSP00000400425:R229Q;ENSP00000391928:R273Q	ENSP00000265593:R273Q	R	-	2	0	CLCN2	185557924	1.000000	0.71417	0.145000	0.22337	0.831000	0.47069	6.070000	0.71220	1.293000	0.44690	0.561000	0.74099	CGG		0.627	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1		
BCL6	604	broad.mit.edu	37	3	187446270	187446270	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:187446270G>A	ENST00000406870.2	-	6	1784	c.1418C>T	c.(1417-1419)cCg>cTg	p.P473L	BCL6_ENST00000450123.2_Missense_Mutation_p.P473L|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.P473L	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	473					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P473L(1)|p.K474fs*26(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CGTGCACTTCGGGGGGTGCAT	0.627			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																p.P473L			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	.	.	2	Substitution - Missense(1)|Insertion - Frameshift(1)	large_intestine(2)	c.C1418T	3						.						63.0	56.0	58.0					3																	187446270		2203	4300	6503	188928964	SO:0001583	missense	604	exon6				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1418C>T	3.37:g.187446270G>A	ENSP00000384371:p.Pro473Leu		188928964	NM_001130845	A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.456922	0.26161	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.09817	3.12;3.12;2.94	5.09	5.09	0.68999	.	0.114333	0.64402	D	0.000009	T	0.03564	0.0102	N	0.00926	-1.1	0.49299	D	0.999775	B;P	0.46020	0.0;0.871	B;B	0.33521	0.001;0.165	T	0.56872	-0.7907	10	0.26408	T	0.33	.	18.3699	0.90403	0.0:0.0:1.0:0.0	.	473;473	B8PSA7;P41182	.;BCL6_HUMAN	L	473	ENSP00000384371:P473L;ENSP00000232014:P473L;ENSP00000413122:P473L	ENSP00000232014:P473L	P	-	2	0	BCL6	188928964	1.000000	0.71417	0.985000	0.45067	0.894000	0.52154	6.735000	0.74806	2.756000	0.94617	0.561000	0.74099	CCG		0.627	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931	
MB21D2	151963	broad.mit.edu	37	3	192516726	192516726	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:192516726C>T	ENST00000392452.2	-	2	1245	c.925G>A	c.(925-927)Gcc>Acc	p.A309T		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	309							protein complex binding (GO:0032403)	p.A307T(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCCTGATAGGCCTGCATGAGG	0.557																																					p.A309T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G925A	3						.						34.0	34.0	34.0					3																	192516726		2203	4300	6503	193999420	SO:0001583	missense	151963	exon2			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.925G>A	3.37:g.192516726C>T	ENSP00000376246:p.Ala309Thr		193999420	NM_178496	Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294427	0.60086	.	.	ENSG00000180611	ENST00000392452	T	0.08008	3.14	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.09291	0.0229	L	0.39397	1.21	0.80722	D	1	B	0.33883	0.43	B	0.30572	0.117	T	0.24799	-1.0150	10	0.27785	T	0.31	.	18.2403	0.89966	0.0:1.0:0.0:0.0	.	309	Q8IYB1	M21D2_HUMAN	T	309	ENSP00000376246:A309T	ENSP00000376246:A309T	A	-	1	0	MB21D2	193999420	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.542000	0.85734	0.655000	0.94253	GCC		0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496	
HRASLS	57110	broad.mit.edu	37	3	192980824	192980824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:192980824C>T	ENST00000602513.1	+	3	614	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	HRASLS_ENST00000264735.2_Nonsense_Mutation_p.Q174*			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	69					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)	p.Q69*(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|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;0.000159)		GGTGAAAATGCAGCTCTTGAA	0.428																																					p.Q69X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C205T	3						.						164.0	171.0	169.0					3																	192980824		2203	4300	6503	194463518	SO:0001587	stop_gained	57110	exon3			AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.205C>T	3.37:g.192980824C>T	ENSP00000473258:p.Gln69*		194463518	NM_020386	D2KX19	Nonsense_Mutation	SNP	ENST00000602513.1	37		.	.	.	.	.	.	.	.	.	.	C	42	9.215668	0.99103	.	.	ENSG00000127252	ENST00000264735	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	4.6886	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	X	69	.	ENSP00000264735:Q69X	Q	+	1	0	HRASLS	194463518	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.739000	0.55075	2.941000	0.99782	0.655000	0.94253	CAG		0.428	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
NGLY1	55768	broad.mit.edu	37	3	25761041	25761041	+	Silent	SNP	G	G	A	rs117889176	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:25761041G>A	ENST00000280700.5	-	12	2035	c.1875C>T	c.(1873-1875)gtC>gtT	p.V625V	NGLY1_ENST00000396649.3_3'UTR|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000428257.1_Silent_p.V607V|NGLY1_ENST00000417874.2_Silent_p.V583V|NGLY1_ENST00000422724.2_3'UTR	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	625	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)	p.V625V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GTTGCCAAGCGACATCACCAT	0.388																																					p.V583V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1749T	3						.						106.0	108.0	107.0					3																	25761041		2203	4300	6503	25736045	SO:0001819	synonymous_variant	55768	exon12			AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1875C>T	3.37:g.25761041G>A			25736045	NM_001145294	B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Silent	SNP	ENST00000280700.5	37	CCDS33719.1																																																																																				0.388	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2		
MLH1	4292	broad.mit.edu	37	3	37070324	37070324	+	Nonsense_Mutation	SNP	C	C	T	rs63749795|rs587778919		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:37070324C>T	ENST00000231790.2	+	13	1675	c.1459C>T	c.(1459-1461)Cga>Tga	p.R487*	MLH1_ENST00000455445.2_Nonsense_Mutation_p.R246*|MLH1_ENST00000539477.1_Nonsense_Mutation_p.R246*|MLH1_ENST00000435176.1_Nonsense_Mutation_p.R389*|MLH1_ENST00000458205.2_Nonsense_Mutation_p.R246*|MLH1_ENST00000536378.1_Nonsense_Mutation_p.R246*	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	487	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.R487*(1)|p.R487R(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AGATGATTCCCGAAAGGAAAT	0.418		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.R487X		yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	.	.	3	Substitution - Nonsense(1)|Whole gene deletion(1)|Substitution - coding silent(1)	ovary(1)|lung(1)|large_intestine(1)	c.C1459T	3	GRCh37	CM000177	MLH1	M	rs63749795	.						207.0	211.0	210.0					3																	37070324		2203	4300	6503	37045328	SO:0001587	stop_gained	4292	exon13	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	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1459C>T	3.37:g.37070324C>T	ENSP00000231790:p.Arg487*		37045328	NM_000249	B4DI13|B4DQ11|E9PCU2	Nonsense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	C	40	8.097178	0.98651	.	.	ENSG00000076242	ENST00000231790;ENST00000383761;ENST00000421440;ENST00000396438;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378;ENST00000450420;ENST00000413740	.	.	.	5.72	1.29	0.21616	.	1.288720	0.05174	N	0.500017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-2.0E-4	9.3531	0.38151	0.3865:0.2478:0.3657:0.0	rs63749795	.	.	.	X	487;351;30;30;246;246;246;389;246;28;28	.	ENSP00000231790:R487X	R	+	1	2	MLH1	37045328	0.000000	0.05858	0.416000	0.26546	0.962000	0.63368	0.280000	0.18790	0.308000	0.22923	0.563000	0.77884	CGA		0.418	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	
ACAA1	30	broad.mit.edu	37	3	38168131	38168131	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:38168131C>T	ENST00000333167.8	-	8	859	c.687G>A	c.(685-687)acG>acA	p.T229T	ACAA1_ENST00000544624.1_Silent_p.T77T|ACAA1_ENST00000301810.7_Silent_p.T196T|ACAA1_ENST00000444607.2_3'UTR|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000450296.1_Silent_p.T188T|ACAA1_ENST00000480865.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	229					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)	p.T229T(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CATCATGGACCGTGGTGGTCA	0.602																																					p.T196T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G588A	3						.						173.0	139.0	151.0					3																	38168131		2203	4300	6503	38143135	SO:0001819	synonymous_variant	30	exon7			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.687G>A	3.37:g.38168131C>T			38143135	NM_001130410	G5E935|Q96CA6	Silent	SNP	ENST00000333167.8	37	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	C	4.992	0.184215	0.09495	.	.	ENSG00000060971	ENST00000452171;ENST00000421218	.	.	.	5.46	-5.41	0.02648	.	.	.	.	.	T	0.18759	0.0450	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.29058	-1.0024	4	.	.	.	-14.2767	3.7997	0.08753	0.1485:0.2792:0.3858:0.1864	.	.	.	.	Q	102;119	.	.	R	-	2	0	ACAA1	38143135	0.000000	0.05858	0.004000	0.12327	0.738000	0.42128	-0.850000	0.04317	-0.885000	0.03971	-0.882000	0.02950	CGG		0.602	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607	
MYRIP	25924	broad.mit.edu	37	3	40085626	40085626	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:40085626C>T	ENST00000302541.6	+	3	538	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	MYRIP_ENST00000444716.1_Missense_Mutation_p.R66C|MYRIP_ENST00000396217.3_Silent_p.C22C|MYRIP_ENST00000425621.1_Missense_Mutation_p.R66C	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	66	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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.R66C(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)		CTGCTGCATGCGCTGCTGCTC	0.552																																					p.R66C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C196T	3						.						99.0	77.0	85.0					3																	40085626		2203	4300	6503	40060630	SO:0001583	missense	25924	exon3			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.196C>T	3.37:g.40085626C>T	ENSP00000301972:p.Arg66Cys		40060630	NM_015460	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065203	0.93898	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621	T;T;T	0.78246	-1.16;-1.16;-1.16	5.51	5.51	0.81932	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.89553	0.6748	M	0.87827	2.91	0.80722	D	1	P;D;D	0.89917	0.929;0.958;1.0	P;P;D	0.83275	0.457;0.659;0.996	D	0.90512	0.4482	9	.	.	.	.	16.9147	0.86148	0.0:1.0:0.0:0.0	.	66;66;66	B3KWW4;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	C	66	ENSP00000398665:R66C;ENSP00000301972:R66C;ENSP00000389323:R66C	.	R	+	1	0	MYRIP	40060630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.080000	0.71299	2.582000	0.87167	0.563000	0.77884	CGC		0.552	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460	
TRAK1	22906	broad.mit.edu	37	3	42251393	42251393	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:42251393G>A	ENST00000327628.5	+	14	2279	c.1879G>A	c.(1879-1881)Gac>Aac	p.D627N	TRAK1_ENST00000396175.1_Missense_Mutation_p.D569N|TRAK1_ENST00000341421.3_Missense_Mutation_p.D569N|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	627					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.D569N(4)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTGCCTTAACGACTTTGAAGA	0.587																																					p.D627N	GBM(44;195 884 22595 31865 41850)											.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G1879A	3						.						138.0	123.0	128.0					3																	42251393		2203	4300	6503	42226397	SO:0001583	missense	22906	exon14				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1879G>A	3.37:g.42251393G>A	ENSP00000328998:p.Asp627Asn		42226397	NM_001042646	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595021	0.86953	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000396175;ENST00000341421	T;T;T	0.21031	2.17;2.13;2.03	5.31	5.31	0.75309	.	0.113159	0.56097	D	0.000026	T	0.30916	0.0780	M	0.70595	2.14	0.58432	D	0.999996	D;D;D;D;D	0.62365	0.968;0.984;0.968;0.991;0.975	B;B;B;B;B	0.43754	0.248;0.248;0.248;0.43;0.335	T	0.25152	-1.0140	10	0.87932	D	0	.	17.9657	0.89099	0.0:0.0:1.0:0.0	.	553;569;627;569;627	B7Z218;C9JC32;B7Z347;Q9UPV9-2;Q9UPV9	.;.;.;.;TRAK1_HUMAN	N	627;627;569;569	ENSP00000328998:D627N;ENSP00000379478:D569N;ENSP00000340702:D569N	ENSP00000328998:D627N	D	+	1	0	TRAK1	42226397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.471000	0.80985	2.468000	0.83385	0.655000	0.94253	GAC		0.587	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965	
ABHD5	51099	broad.mit.edu	37	3	43744000	43744000	+	Nonsense_Mutation	SNP	G	G	T	rs374480855		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:43744000G>T	ENST00000458276.2	+	3	550	c.427G>T	c.(427-429)Gga>Tga	p.G143*		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	143					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)	p.G143*(1)		kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		ATGTGCCCTAGGATTGGACAA	0.468																																					p.G143X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G427T	3						.						241.0	231.0	235.0					3																	43744000		2203	4300	6503	43719004	SO:0001587	stop_gained	51099	exon3			AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"""Abhydrolase domain containing"""	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.427G>T	3.37:g.43744000G>T	ENSP00000390849:p.Gly143*		43719004	NM_016006	B2R9K0|Q9Y369	Nonsense_Mutation	SNP	ENST00000458276.2	37	CCDS2711.1	.	.	.	.	.	.	.	.	.	.	G	37	6.277214	0.97435	.	.	ENSG00000011198	ENST00000456453;ENST00000458276	.	.	.	5.66	2.81	0.32909	.	0.154543	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-24.5331	9.9641	0.41715	0.2295:0.0:0.7705:0.0	.	.	.	.	X	102;143	.	ENSP00000391582:G102X	G	+	1	0	ABHD5	43719004	1.000000	0.71417	0.008000	0.14137	0.780000	0.44128	5.434000	0.66526	0.284000	0.22305	-0.244000	0.11960	GGA		0.468	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256644.2	NM_016006	
LARS2	23395	broad.mit.edu	37	3	45500311	45500311	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:45500311G>A	ENST00000415258.1	+	7	824	c.683G>A	c.(682-684)cGt>cAt	p.R228H	LARS2_ENST00000265537.3_Missense_Mutation_p.R228H|LARS2_ENST00000414984.1_Missense_Mutation_p.R185H			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	228					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.R228H(1)		endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGTTCATGGCGTTCTGGAGCA	0.478																																					p.R228H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G683A	3						.						133.0	122.0	126.0					3																	45500311		2203	4300	6503	45475315	SO:0001583	missense	23395	exon8			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.683G>A	3.37:g.45500311G>A	ENSP00000408576:p.Arg228His		45475315	NM_015340		Missense_Mutation	SNP	ENST00000415258.1	37	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497919	0.96355	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	D;D;D	0.82167	-1.58;-1.58;-1.58	5.41	5.41	0.78517	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	D	0.94003	0.8079	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95149	0.8271	10	0.87932	D	0	-19.5389	19.5567	0.95351	0.0:0.0:1.0:0.0	.	185;228	E9PHM2;Q15031	.;SYLM_HUMAN	H	228;228;185	ENSP00000265537:R228H;ENSP00000408576:R228H;ENSP00000412893:R185H	ENSP00000265537:R228H	R	+	2	0	LARS2	45475315	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	9.420000	0.97426	2.711000	0.92665	0.563000	0.77884	CGT		0.478	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340	
XCR1	2829	broad.mit.edu	37	3	46062775	46062775	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:46062775C>T	ENST00000309285.3	-	2	1021	c.665G>A	c.(664-666)cGc>cAc	p.R222H	XCR1_ENST00000542109.1_Missense_Mutation_p.R222H	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	222					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.R222H(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTTGACCGTGCGGTGGCGCCG	0.587																																					p.R222H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G665A	3						.						68.0	61.0	64.0					3																	46062775		2203	4300	6503	46037779	SO:0001583	missense	2829	exon2				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.665G>A	3.37:g.46062775C>T	ENSP00000310405:p.Arg222His		46037779	NM_001024644		Missense_Mutation	SNP	ENST00000309285.3	37	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905715	0.72868	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.43688	0.94;0.94	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.191393	0.39544	N	0.001325	T	0.65739	0.2720	M	0.80746	2.51	0.37263	D	0.907054	D	0.89917	1.0	D	0.85130	0.997	T	0.73366	-0.4005	10	0.87932	D	0	.	13.1218	0.59331	0.0:0.927:0.0:0.0729	.	222	P46094	XCR1_HUMAN	H	222	ENSP00000310405:R222H;ENSP00000438119:R222H	ENSP00000310405:R222H	R	-	2	0	XCR1	46037779	1.000000	0.71417	0.956000	0.39512	0.677000	0.39632	2.051000	0.41307	2.696000	0.92011	0.650000	0.86243	CGC		0.587	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2		
NBEAL2	23218	broad.mit.edu	37	3	47042866	47042866	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:47042866C>T	ENST00000450053.3	+	29	4761	c.4582C>T	c.(4582-4584)Cgt>Tgt	p.R1528C	NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1344C|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1528					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.R905C(1)|p.R1528C(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTGGCTGCTGCGTCTGCTGCA	0.612																																					p.R1528C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4582T	3						.						36.0	42.0	40.0					3																	47042866		2121	4248	6369	47017870	SO:0001583	missense	23218	exon29			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4582C>T	3.37:g.47042866C>T	ENSP00000415034:p.Arg1528Cys		47017870	NM_015175	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852868	0.71719	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.60424	0.22;0.19	4.87	4.87	0.63330	.	0.070544	0.64402	D	0.000017	T	0.71804	0.3383	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.74811	-0.3538	10	0.72032	D	0.01	.	15.544	0.76081	0.0:1.0:0.0:0.0	.	1528	Q6ZNJ1	NBEL2_HUMAN	C	1344;1528	ENSP00000292309:R1344C;ENSP00000415034:R1528C	ENSP00000292309:R1344C	R	+	1	0	NBEAL2	47017870	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.814000	0.38972	2.517000	0.84864	0.563000	0.77884	CGT		0.612	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
PLXNB1	5364	broad.mit.edu	37	3	48463566	48463566	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:48463566A>G	ENST00000358536.4	-	6	1737	c.1468T>C	c.(1468-1470)Tct>Cct	p.S490P	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.S490P|PLXNB1_ENST00000456774.1_Missense_Mutation_p.S490P|PLXNB1_ENST00000296440.6_Missense_Mutation_p.S490P	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	490					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.S490P(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCAAGGCAAGATGCACAGTCC	0.577																																					p.S490P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1468C	3						.						82.0	73.0	76.0					3																	48463566		2203	4300	6503	48438570	SO:0001583	missense	5364	exon6			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1468T>C	3.37:g.48463566A>G	ENSP00000351338:p.Ser490Pro		48438570	NM_002673	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	a	22.7	4.324822	0.81580	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.45	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	M	0.88906	2.99	0.80722	D	1	D;P	0.76494	0.999;0.674	D;P	0.76575	0.988;0.518	T	0.56282	-0.8005	10	0.59425	D	0.04	.	11.7561	0.51875	0.8524:0.1476:0.0:0.0	.	490;490	O43157;O43157-2	PLXB1_HUMAN;.	P	490	ENSP00000296440:S490P;ENSP00000351242:S490P;ENSP00000351338:S490P;ENSP00000414199:S490P	ENSP00000296440:S490P	S	-	1	0	PLXNB1	48438570	1.000000	0.71417	0.733000	0.30861	0.977000	0.68977	9.044000	0.93805	0.869000	0.35703	0.524000	0.50904	TCT		0.577	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673	
P4HTM	54681	broad.mit.edu	37	3	49039998	49039998	+	Silent	SNP	C	C	T	rs558724306	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:49039998C>T	ENST00000383729.4	+	4	1064	c.693C>T	c.(691-693)taC>taT	p.Y231Y	P4HTM_ENST00000343546.4_Silent_p.Y231Y	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	231	EF-hand 2.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|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)	p.Y231Y(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	AGGAGATGTACGCCGCGATCA	0.577													C|||	3	0.000599042	0.0	0.0	5008	,	,		19678	0.0		0.0	False		,,,				2504	0.0031				p.Y231Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C693T	3						.						201.0	180.0	187.0					3																	49039998		2203	4300	6503	49015002	SO:0001819	synonymous_variant	54681	exon4				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.693C>T	3.37:g.49039998C>T			49015002	NM_177938	Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Silent	SNP	ENST00000383729.4	37	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	C	5.737	0.320365	0.10845	.	.	ENSG00000178467	ENST00000444213	.	.	.	5.76	3.98	0.46160	.	.	.	.	.	T	0.58694	0.2140	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54111	-0.8342	4	.	.	.	-23.819	8.63	0.33913	0.0:0.7134:0.0:0.2866	.	.	.	.	C	161	.	.	R	+	1	0	P4HTM	49015002	0.808000	0.29022	0.842000	0.33263	0.629000	0.37895	0.678000	0.25277	0.793000	0.33875	-0.253000	0.11424	CGC		0.577	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938	
NICN1	84276	broad.mit.edu	37	3	49463813	49463813	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:49463813G>T	ENST00000273598.3	-	2	267	c.181C>A	c.(181-183)Cgt>Agt	p.R61S	NICN1-AS1_ENST00000424915.1_RNA|NICN1_ENST00000436744.2_Missense_Mutation_p.R61S|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	61						microtubule (GO:0005874)|nucleus (GO:0005634)		p.R61S(1)		kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGACGGACACGGATGCTCAAA	0.532																																					p.R61S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C181A	3						.						96.0	82.0	86.0					3																	49463813		2203	4300	6503	49438817	SO:0001583	missense	84276	exon2			AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.181C>A	3.37:g.49463813G>T	ENSP00000273598:p.Arg61Ser		49438817	NM_032316	Q8IZQ2	Missense_Mutation	SNP	ENST00000273598.3	37	CCDS2798.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.655985	0.67586	.	.	ENSG00000145029	ENST00000273598;ENST00000430622;ENST00000436744	T;T	0.23754	1.89;1.89	5.15	5.15	0.70609	.	0.063063	0.64402	D	0.000009	T	0.35799	0.0944	L	0.48642	1.525	0.49389	D	0.999788	D;D	0.56287	0.975;0.975	P;P	0.55577	0.7;0.779	T	0.07751	-1.0756	10	0.72032	D	0.01	-5.8005	11.2404	0.48966	0.0:0.0:0.817:0.1829	.	61;61	B4DX77;Q9BSH3	.;NICN1_HUMAN	S	61	ENSP00000273598:R61S;ENSP00000402335:R61S	ENSP00000273598:R61S	R	-	1	0	NICN1	49438817	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.396000	0.73234	2.417000	0.82017	0.655000	0.94253	CGT		0.532	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316	
MST1R	4486	broad.mit.edu	37	3	49933239	49933239	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:49933239C>T	ENST00000296474.3	-	12	2898	c.2871G>A	c.(2869-2871)acG>acA	p.T957T	MST1R_ENST00000344206.4_Silent_p.T908T	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	957					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)	p.T957T(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TACCAAGGAGCGTGCTCTGTG	0.607																																					p.T957T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2871A	3						.						62.0	62.0	62.0					3																	49933239		2203	4300	6503	49908243	SO:0001819	synonymous_variant	4486	exon12			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2871G>A	3.37:g.49933239C>T			49908243	NM_002447	B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	6.656	0.489541	0.12641	.	.	ENSG00000164078	ENST00000434765	.	.	.	5.43	-10.9	0.00192	.	.	.	.	.	T	0.21468	0.0517	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	T	0.14755	-1.0461	4	.	.	.	2.0586	6.3956	0.21611	0.0905:0.1811:0.0901:0.6383	.	.	.	.	H	4	.	.	R	-	2	0	MST1R	49908243	0.000000	0.05858	0.001000	0.08648	0.178000	0.23041	-1.751000	0.01821	-1.597000	0.01609	-0.333000	0.08304	CGC		0.607	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1		
CACNA2D2	9254	broad.mit.edu	37	3	50416556	50416556	+	Silent	SNP	G	G	A	rs150031515		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:50416556G>A	ENST00000479441.1	-	12	1226	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	CACNA2D2_ENST00000435965.1_Silent_p.D409D|CACNA2D2_ENST00000266039.3_Silent_p.D409D|CACNA2D2_ENST00000423994.2_Silent_p.D409D|CACNA2D2_ENST00000360963.3_Silent_p.D340D|CACNA2D2_ENST00000424201.2_Silent_p.D409D|CACNA2D2_ENST00000395083.1_Silent_p.D409D|CACNA2D2_ENST00000429770.1_Silent_p.D409D			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	409	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.D409D(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCTCAAAGACGTCCTGCACGC	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21945	0.0		0.0	False		,,,				2504	0.0				p.D409D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1227T	3						.	G	,,	9,4397	16.8+/-37.8	0,9,2194	156.0	121.0	133.0		1227,1227,1227	-9.3	0.6	3	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA2D2	NM_001005505.1,NM_001174051.1,NM_006030.2	,,	0,10,6493	AA,AG,GG		0.0116,0.2043,0.0769	,,	409/1146,409/1151,409/1144	50416556	10,12996	2203	4300	6503	50391560	SO:0001819	synonymous_variant	9254	exon12			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1227C>T	3.37:g.50416556G>A			50391560	NM_006030	A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	CCDS54588.1																																																																																				0.597	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030	
RBM15B	29890	broad.mit.edu	37	3	51430451	51430451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:51430451C>T	ENST00000323686.4	+	1	1721	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	541					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R541R(1)|p.R541*(1)		endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTACTCAGACCGAGACCGGAC	0.607																																					p.R541X												.	.	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	large_intestine(2)	c.C1621T	3						.						37.0	43.0	41.0					3																	51430451		2203	4300	6503	51405491	SO:0001587	stop_gained	29890	exon1			AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1621C>T	3.37:g.51430451C>T	ENSP00000313890:p.Arg541*		51405491	NM_013286	A4QPG7|Q6QE19|Q9BV96	Nonsense_Mutation	SNP	ENST00000323686.4	37	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	C	36	5.746616	0.96882	.	.	ENSG00000179837	ENST00000323686;ENST00000541145	.	.	.	5.55	2.58	0.30949	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4592	14.3491	0.66688	0.5025:0.4975:0.0:0.0	.	.	.	.	X	541;214	.	ENSP00000313890:R541X	R	+	1	2	RBM15B	51405491	0.937000	0.31787	0.998000	0.56505	0.998000	0.95712	0.821000	0.27338	0.676000	0.31285	0.655000	0.94253	CGA		0.607	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286	
GPR62	118442	broad.mit.edu	37	3	51989779	51989779	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:51989779C>T	ENST00000322241.4	+	1	450	c.111C>T	c.(109-111)gtC>gtT	p.V37V		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.V37V(1)		endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCTGCTGGTCGTGGTGCTGC	0.706																																					p.V37V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C111T	3						.						36.0	29.0	31.0					3																	51989779		2196	4298	6494	51964819	SO:0001819	synonymous_variant	118442	exon1			AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929		"""GPCR / Class A : Orphans"""	13301	protein-coding gene	gene with protein product		606917				11165367	Standard	NM_080865		Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.111C>T	3.37:g.51989779C>T			51964819	NM_080865	F1DAM4|Q5KU27	Silent	SNP	ENST00000322241.4	37	CCDS2838.1																																																																																				0.706	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1		
ALAS1	211	broad.mit.edu	37	3	52242218	52242218	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:52242218C>T	ENST00000394965.2	+	9	1645	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	ALAS1_ENST00000469224.1_Missense_Mutation_p.R429W|ALAS1_ENST00000310271.2_Missense_Mutation_p.R429W|ALAS1_ENST00000484952.1_Missense_Mutation_p.R429W	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	429					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.R429W(2)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	GATTGGGGATCGGGATGGAGT	0.478																																					p.R429W												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C1285T	3						.						137.0	126.0	130.0					3																	52242218		2203	4300	6503	52217258	SO:0001583	missense	211	exon9			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1285C>T	3.37:g.52242218C>T	ENSP00000378416:p.Arg429Trp		52217258	NM_000688		Missense_Mutation	SNP	ENST00000394965.2	37	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313335	0.81358	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	5.11	5.11	0.69529	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	H	0.96996	3.92	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98354	1.0545	10	0.87932	D	0	-13.6701	13.9625	0.64191	0.1524:0.8476:0.0:0.0	.	446;429	B4DVA0;P13196	.;HEM1_HUMAN	W	429	ENSP00000417719:R429W;ENSP00000378416:R429W;ENSP00000309259:R429W;ENSP00000418779:R429W	ENSP00000309259:R429W	R	+	1	2	ALAS1	52217258	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	2.966000	0.49208	2.372000	0.80975	0.655000	0.94253	CGG		0.478	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1		
GLYCTK	132158	broad.mit.edu	37	3	52326835	52326835	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:52326835G>A	ENST00000436784.2	+	5	1325	c.1265G>A	c.(1264-1266)cGg>cAg	p.R422Q	GLYCTK_ENST00000477382.1_3'UTR|GLYCTK-AS1_ENST00000493616.1_RNA|MIR135A1_ENST00000385191.1_RNA|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000354773.4_3'UTR			Q8IVS8	GLCTK_HUMAN	glycerate kinase	422					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)	p.R422Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		AGGGGTGGCCGGAACCAGGAA	0.652																																					p.R422Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1265A	3						.						65.0	64.0	64.0					3																	52326835		2203	4300	6503	52301875	SO:0001583	missense	132158	exon5				CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.1265G>A	3.37:g.52326835G>A	ENSP00000389175:p.Arg422Gln		52301875	NM_145262	Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	ENST00000436784.2	37	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	G	36	5.891426	0.97074	.	.	ENSG00000168237	ENST00000436784;ENST00000411757	T	0.63096	-0.02	5.98	5.98	0.97165	MOFRL domain (2);	0.000000	0.85682	D	0.000000	D	0.87374	0.6161	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90560	0.4515	9	.	.	.	-32.0588	20.4293	0.99080	0.0:0.0:1.0:0.0	.	422	Q8IVS8	GLCTK_HUMAN	Q	422;356	ENSP00000389175:R422Q	.	R	+	2	0	GLYCTK	52301875	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.609000	0.98334	2.833000	0.97629	0.655000	0.94253	CGG		0.652	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262	
DNAH1	25981	broad.mit.edu	37	3	52407054	52407054	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:52407054G>A	ENST00000420323.2	+	44	7231	c.6970G>A	c.(6970-6972)Gac>Aac	p.D2324N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2324	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2324N(3)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGCTGGTACGACCGCAAGAT	0.622																																					p.D2324N												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G6970A	3						.						37.0	42.0	40.0					3																	52407054		2069	4198	6267	52382094	SO:0001583	missense	25981	exon44			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6970G>A	3.37:g.52407054G>A	ENSP00000401514:p.Asp2324Asn		52382094	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322378	0.95708	.	.	ENSG00000114841	ENST00000420323	T	0.51071	0.72	4.5	4.5	0.54988	.	0.120071	0.36932	N	0.002337	T	0.65450	0.2692	M	0.78916	2.43	0.80722	D	1	D	0.65815	0.995	P	0.58077	0.832	T	0.68292	-0.5447	10	0.44086	T	0.13	.	17.7428	0.88411	0.0:0.0:1.0:0.0	.	2324	C9JXH6	.	N	2324	ENSP00000401514:D2324N	ENSP00000401514:D2324N	D	+	1	0	DNAH1	52382094	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.383000	0.97214	2.501000	0.84356	0.655000	0.94253	GAC		0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
STAB1	23166	broad.mit.edu	37	3	52538507	52538507	+	Missense_Mutation	SNP	C	C	T	rs147636423		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:52538507C>T	ENST00000321725.6	+	11	1257	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	394	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.A394V(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTTACCACAGCGGGCCCTTTC	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17541	0.0		0.001	False		,,,				2504	0.0				p.A394V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1181T	3						.	C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	98.0	95.0	96.0		1181	4.5	0.3	3	dbSNP_134	96	4,8596	3.7+/-12.6	0,4,4296	yes	missense	STAB1	NM_015136.2	64	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	394/2571	52538507	5,13001	2203	4300	6503	52513547	SO:0001583	missense	23166	exon11			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1181C>T	3.37:g.52538507C>T	ENSP00000312946:p.Ala394Val		52513547	NM_015136	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.886	0.532961	0.13188	2.27E-4	4.65E-4	ENSG00000010327	ENST00000321725	T	0.08370	3.1	4.47	4.47	0.54385	FAS1 domain (3);	0.399722	0.23922	N	0.043226	T	0.05502	0.0145	L	0.29908	0.895	0.20074	N	0.999938	P;P	0.39601	0.506;0.68	B;B	0.30716	0.084;0.119	T	0.39722	-0.9600	10	0.15952	T	0.53	.	13.0001	0.58670	0.0:1.0:0.0:0.0	.	394;394	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	V	394	ENSP00000312946:A394V	ENSP00000312946:A394V	A	+	2	0	STAB1	52513547	0.002000	0.14202	0.302000	0.25058	0.120000	0.20174	1.592000	0.36676	2.214000	0.71695	0.462000	0.41574	GCG		0.632	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
STAB1	23166	broad.mit.edu	37	3	52540233	52540233	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:52540233G>A	ENST00000321725.6	+	17	1873	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	599	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.A599A(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCACCATGGCGAACCAGGTCC	0.622																																					p.A599A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1797A	3						.						96.0	76.0	83.0					3																	52540233		2202	4300	6502	52515273	SO:0001819	synonymous_variant	23166	exon17			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1797G>A	3.37:g.52540233G>A			52515273	NM_015136	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	CCDS33768.1																																																																																				0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
STAB1	23166	broad.mit.edu	37	3	52557260	52557260	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:52557260C>T	ENST00000321725.6	+	64	7119	c.7043C>T	c.(7042-7044)gCc>gTc	p.A2348V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2348	FAS1 7. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.A2348V(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TATGCCAATGCCACCCAGCGG	0.577																																					p.A2348V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7043T	3						.						104.0	99.0	101.0					3																	52557260		2203	4300	6503	52532300	SO:0001583	missense	23166	exon64			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.7043C>T	3.37:g.52557260C>T	ENSP00000312946:p.Ala2348Val		52532300	NM_015136	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483718	0.63962	.	.	ENSG00000010327	ENST00000321725	D	0.91237	-2.81	5.74	4.86	0.63082	FAS1 domain (3);	0.506468	0.19990	N	0.101592	D	0.83487	0.5265	L	0.41236	1.265	0.33626	D	0.605458	P;P	0.37612	0.602;0.543	B;B	0.31946	0.138;0.095	D	0.86094	0.1552	10	0.42905	T	0.14	.	8.292	0.31963	0.1568:0.7632:0.0:0.08	.	235;2348	B3KSK0;Q9NY15	.;STAB1_HUMAN	V	2348	ENSP00000312946:A2348V	ENSP00000312946:A2348V	A	+	2	0	STAB1	52532300	0.604000	0.26932	1.000000	0.80357	0.974000	0.67602	1.549000	0.36212	2.712000	0.92718	0.561000	0.74099	GCC		0.577	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
ITIH1	3697	broad.mit.edu	37	3	52821017	52821017	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:52821017C>T	ENST00000273283.2	+	14	1814	c.1790C>T	c.(1789-1791)tCg>tTg	p.S597L	ITIH1_ENST00000542827.1_Missense_Mutation_p.S597L|ITIH1_ENST00000540715.1_Missense_Mutation_p.S455L|ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000537050.1_Missense_Mutation_p.S309L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	597	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S597L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CTGCAGATGTCGCTGGACTAT	0.617																																					p.S455L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1364T	3						.						90.0	84.0	86.0					3																	52821017		2203	4300	6503	52796057	SO:0001583	missense	3697	exon12				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1790C>T	3.37:g.52821017C>T	ENSP00000273283:p.Ser597Leu		52796057	NM_001166434	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670272	0.67814	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.44	5.44	0.79542	.	0.059907	0.64402	D	0.000001	T	0.78052	0.4223	M	0.90814	3.15	0.50467	D	0.999872	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.994;0.946;0.932	T	0.82110	-0.0619	10	0.87932	D	0	-9.7388	17.2341	0.86994	0.0:1.0:0.0:0.0	.	455;198;597	F5H165;Q9P1C5;P19827	.;.;ITIH1_HUMAN	L	597;597;455;309;150	ENSP00000442584:S597L;ENSP00000273283:S597L;ENSP00000443973:S455L;ENSP00000443847:S309L;ENSP00000395836:S150L	ENSP00000273283:S597L	S	+	2	0	ITIH1	52796057	1.000000	0.71417	0.966000	0.40874	0.005000	0.04900	4.926000	0.63433	2.837000	0.97791	0.655000	0.94253	TCG		0.617	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	
ITIH3	3699	broad.mit.edu	37	3	52835122	52835122	+	Missense_Mutation	SNP	G	G	T	rs199816198	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:52835122G>T	ENST00000449956.2	+	11	1349	c.1343G>T	c.(1342-1344)cGg>cTg	p.R448L	ITIH3_ENST00000416872.2_Missense_Mutation_p.R448L	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	448	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R448L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGGTTTGCCCGGCGCATTTAT	0.522																																					p.R448L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1343T	3						.						65.0	68.0	67.0					3																	52835122		1949	4127	6076	52810162	SO:0001583	missense	3699	exon11				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1343G>T	3.37:g.52835122G>T	ENSP00000415769:p.Arg448Leu		52810162	NM_002217	Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119987	0.94385	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	D;D	0.82984	-1.67;-1.67	5.33	5.33	0.75918	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.92008	0.7468	M	0.86740	2.835	0.53688	D	0.99997	D;D	0.71674	0.993;0.998	P;D	0.71414	0.86;0.973	D	0.92250	0.5808	10	0.52906	T	0.07	-14.4835	17.9616	0.89087	0.0:0.0:1.0:0.0	.	448;448	E7ET33;Q06033	.;ITIH3_HUMAN	L	448;436;443;448;448	ENSP00000413922:R448L;ENSP00000415769:R448L	ENSP00000273291:R443L	R	+	2	0	ITIH3	52810162	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.012000	0.76366	2.775000	0.95449	0.655000	0.94253	CGG		0.522	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217	
CACNA1D	776	broad.mit.edu	37	3	53845190	53845190	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:53845190G>A	ENST00000350061.5	+	48	6754	c.6243G>A	c.(6241-6243)gtG>gtA	p.V2081V	CACNA1D_ENST00000422281.2_Silent_p.V2057V|CACNA1D_ENST00000288139.4_Silent_p.V2101V|CACNA1D_ENST00000544977.1_3'UTR	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2081					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.V2101V(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAAAATTTGTGTCAGCAACAA	0.527																																					p.V2057V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6171A	3						.						114.0	105.0	108.0					3																	53845190		2203	4300	6503	53820230	SO:0001819	synonymous_variant	776	exon46			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6243G>A	3.37:g.53845190G>A			53820230	NM_001128839	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	CCDS46848.1																																																																																				0.527	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
CHDH	55349	broad.mit.edu	37	3	53856621	53856621	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:53856621C>T	ENST00000315251.6	-	4	1189	c.752G>A	c.(751-753)cGc>cAc	p.R251H		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	251					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)	p.R251H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GAGGTTGGTGCGGCTCAGTGC	0.647																																					p.R251H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G752A	3						.						90.0	73.0	79.0					3																	53856621		2203	4300	6503	53831661	SO:0001583	missense	55349	exon4			AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.752G>A	3.37:g.53856621C>T	ENSP00000319851:p.Arg251His		53831661	NM_018397	Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346508	0.95807	.	.	ENSG00000016391	ENST00000315251	T	0.51817	0.69	5.65	4.78	0.61160	Glucose-methanol-choline oxidoreductase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81602	-0.0858	10	0.87932	D	0	-38.7829	14.5778	0.68262	0.0:0.9297:0.0:0.0703	.	251	Q8NE62	CHDH_HUMAN	H	251	ENSP00000319851:R251H	ENSP00000319851:R251H	R	-	2	0	CHDH	53831661	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.888000	0.75622	1.626000	0.50381	0.655000	0.94253	CGC		0.647	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397	
MAGI1	9223	broad.mit.edu	37	3	65342585	65342585	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:65342585G>A	ENST00000402939.2	-	23	3856	c.3857C>T	c.(3856-3858)tCg>tTg	p.S1286L	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1315					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.S1286L(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGGTTTCCTCGAAGTCCCATT	0.652																																					p.S1286L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3857T	3						.						123.0	117.0	119.0					3																	65342585		2203	4300	6503	65317625	SO:0001583	missense	9223	exon23			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3857C>T	3.37:g.65342585G>A	ENSP00000385450:p.Ser1286Leu		65317625	NM_001033057	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	G	6.411	0.443971	0.12164	.	.	ENSG00000151276	ENST00000402939	T	0.12879	2.64	4.7	3.79	0.43588	.	0.833032	0.10977	N	0.613142	T	0.12135	0.0295	L	0.29908	0.895	0.80722	D	1	B	0.22604	0.072	B	0.16722	0.016	T	0.08534	-1.0717	10	0.25106	T	0.35	-1.3914	14.4224	0.67193	0.0:0.2797:0.7202:0.0	.	1286	Q96QZ7-2	.	L	1286	ENSP00000385450:S1286L	ENSP00000385450:S1286L	S	-	2	0	MAGI1	65317625	1.000000	0.71417	0.815000	0.32552	0.013000	0.08279	2.867000	0.48428	0.906000	0.36621	0.561000	0.74099	TCG		0.652	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742	
MAGI1	9223	broad.mit.edu	37	3	65376821	65376821	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:65376821G>A	ENST00000497477.2	-	14	2411	c.2412C>T	c.(2410-2412)aaC>aaT	p.N804N	MAGI1_ENST00000402939.2_Silent_p.N804N|MAGI1_ENST00000330909.8_Silent_p.N804N|MAGI1_ENST00000483466.1_Silent_p.N804N			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	804					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.N804N(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ACTCACGTCGGTTTTCATACA	0.498																																					p.N804N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2412T	3						.						79.0	80.0	80.0					3																	65376821		2203	4300	6503	65351861	SO:0001819	synonymous_variant	9223	exon14			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2412C>T	3.37:g.65376821G>A			65351861	NM_015520	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	G	8.913	0.959096	0.18507	.	.	ENSG00000151276	ENST00000460329	.	.	.	5.84	4.97	0.65823	.	.	.	.	.	T	0.70780	0.3263	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70200	-0.4937	4	.	.	.	-17.9764	14.9732	0.71249	0.0682:0.0:0.9318:0.0	.	.	.	.	I	685	.	.	T	-	2	0	MAGI1	65351861	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.795000	0.69074	1.482000	0.48325	0.655000	0.94253	ACC		0.498	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	
MITF	4286	broad.mit.edu	37	3	70014356	70014356	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:70014356G>A	ENST00000448226.2	+	10	1665	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	MITF_ENST00000394355.2_Missense_Mutation_p.R482Q|MITF_ENST00000328528.6_Missense_Mutation_p.R506Q|MITF_ENST00000314589.5_Missense_Mutation_p.R491Q|MITF_ENST00000394351.3_Missense_Mutation_p.R406Q|MITF_ENST00000314557.6_Missense_Mutation_p.R400Q|MITF_ENST00000472437.1_Missense_Mutation_p.R455Q|MITF_ENST00000531774.1_Missense_Mutation_p.R344Q|MITF_ENST00000352241.4_Missense_Mutation_p.R507Q			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	513					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.R406Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ACAAGCAGCCGGAGGAGCAGT	0.517			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														p.R400Q	Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1199A	3						.						93.0	97.0	96.0					3																	70014356		2203	4300	6503	70097046	SO:0001583	missense	4286	exon9				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1538G>A	3.37:g.70014356G>A	ENSP00000391803:p.Arg513Gln		70097046	NM_198158	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37		.	.	.	.	.	.	.	.	.	.	G	26.6	4.753800	0.89753	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	6.04	6.04	0.98038	.	0.051855	0.85682	D	0.000000	D	0.85309	0.5667	M	0.79123	2.44	0.43608	D	0.995977	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.75484	0.986;0.975;0.975;0.975;0.975;0.975;0.975	D	0.83925	0.0303	9	.	.	.	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	455;406;400;482;491;506;507	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	Q	507;513;455;506;491;482;400;406;344	ENSP00000295600:R507Q;ENSP00000391803:R513Q;ENSP00000418845:R455Q;ENSP00000327867:R506Q;ENSP00000324443:R491Q;ENSP00000377884:R482Q;ENSP00000324246:R400Q;ENSP00000377880:R406Q;ENSP00000435909:R344Q	.	R	+	2	0	MITF	70097046	1.000000	0.71417	0.986000	0.45419	0.971000	0.66376	6.890000	0.75633	2.873000	0.98535	0.561000	0.74099	CGG		0.517	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159	
GXYLT2	727936	broad.mit.edu	37	3	73016726	73016726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:73016726G>A	ENST00000389617.4	+	6	1166	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	335					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.W335*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						CCTGCCAGTGGAACTACCGTC	0.502																																					p.W335X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1005A	3						.						82.0	81.0	81.0					3																	73016726		2022	4190	6212	73099416	SO:0001587	stop_gained	727936	exon6			AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.1005G>A	3.37:g.73016726G>A	ENSP00000374268:p.Trp335*		73099416	NM_001080393		Nonsense_Mutation	SNP	ENST00000389617.4	37	CCDS46870.1	.	.	.	.	.	.	.	.	.	.	G	35	5.592330	0.96590	.	.	ENSG00000172986	ENST00000389617;ENST00000491839	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7923	0.96464	0.0:0.0:1.0:0.0	.	.	.	.	X	335;96	.	ENSP00000374268:W335X	W	+	3	0	GXYLT2	73099416	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.565000	0.98154	2.752000	0.94435	0.557000	0.71058	TGG		0.502	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393	
EBLN2	55096	broad.mit.edu	37	3	73111422	73111422	+	Missense_Mutation	SNP	G	G	A	rs376896494		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:73111422G>A	ENST00000533473.1	+	1	613	c.190G>A	c.(190-192)Gca>Aca	p.A64T	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	64								p.A64T(1)		endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						AGGAGATGACGCAATGGACAG	0.453																																					p.A64T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G190A	3						.	G	THR/ALA,	0,3948		0,0,1974	33.0	34.0	34.0		190,	0.2	0.0	3		34	1,8323		0,1,4161	no	missense,intron	EBLN2,PPP4R2	NM_018029.3,NM_174907.2	58,	0,1,6135	AA,AG,GG		0.012,0.0,0.0081	benign,	64/273,	73111422	1,12271	1974	4162	6136	73194112	SO:0001583	missense	55096	exon1				CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 2"""	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.190G>A	3.37:g.73111422G>A	ENSP00000432104:p.Ala64Thr		73194112	NM_018029	Q8WWH3|Q9NW89	Missense_Mutation	SNP	ENST00000533473.1	37	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	G	3.622	-0.077416	0.07184	0.0	1.2E-4	ENSG00000255423	ENST00000533473	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B	0.20550	0.046	B	0.09377	0.004	T	0.20605	-1.0270	7	0.33141	T	0.24	.	.	.	.	.	64	Q6P2I7	EBLN2_HUMAN	T	64	.	ENSP00000432104:A64T	A	+	1	0	EBLN2	73194112	0.006000	0.16342	0.006000	0.13384	0.006000	0.05464	0.364000	0.20325	0.300000	0.22699	0.305000	0.20034	GCA		0.453	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029	
PDZRN3	23024	broad.mit.edu	37	3	73432828	73432828	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:73432828C>T	ENST00000263666.4	-	10	3003	c.2889G>A	c.(2887-2889)gcG>gcA	p.A963A	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Silent_p.A685A|PDZRN3_ENST00000466780.1_Silent_p.A620A|PDZRN3_ENST00000462146.2_Silent_p.A620A|PDZRN3_ENST00000479530.1_Silent_p.A680A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	963					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A963A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTCGCTCACCGCGTCGTCGT	0.672																																					p.A963A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2889A	3						.						75.0	72.0	73.0					3																	73432828		2203	4300	6503	73515518	SO:0001819	synonymous_variant	23024	exon10			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2889G>A	3.37:g.73432828C>T			73515518	NM_015009	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.192|5.192	0.220967|0.220967	0.09863|0.09863	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000416926|ENST00000494559	.|.	.|.	.|.	5.21|5.21	-1.55|-1.55	0.08558|0.08558	.|.	.|.	.|.	.|.	.|.	T|T	0.80149|0.80149	0.4570|0.4570	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.78157|0.78157	-0.2313|-0.2313	5|4	0.09590|.	T|.	0.72|.	.|.	25.5553|25.5553	0.99994|0.99994	0.0:0.1209:0.8791:0.0|0.0:0.1209:0.8791:0.0	.|.	.|.	.|.	.|.	S|Q	683|279	.|.	ENSP00000392657:G683S|.	G|R	-|-	1|2	0|0	PDZRN3|PDZRN3	73515518|73515518	0.370000|0.370000	0.25047|0.25047	0.008000|0.008000	0.14137|0.14137	0.813000|0.813000	0.45954|0.45954	-0.257000|-0.257000	0.08745|0.08745	-0.749000|-0.749000	0.04747|0.04747	0.563000|0.563000	0.77884|0.77884	GGT|CGG		0.672	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363	
ROBO2	6092	broad.mit.edu	37	3	77147435	77147435	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:77147435T>A	ENST00000461745.1	+	2	1232	c.332T>A	c.(331-333)gTt>gAt	p.V111D	ROBO2_ENST00000487694.3_Missense_Mutation_p.V127D|ROBO2_ENST00000332191.8_Missense_Mutation_p.V111D	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	111	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.V111D(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TACGTTTGTGTTGCGAGGAAC	0.488																																					p.C91X												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T273A	3						.						106.0	108.0	107.0					3																	77147435		2051	4205	6256	77230125	SO:0001583	missense	6092	exon1			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.332T>A	3.37:g.77147435T>A	ENSP00000417164:p.Val111Asp		77230125	NM_001128929	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.915242	0.52546	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.68181	-0.31;-0.31;-0.31	5.59	4.43	0.53597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.216400	0.21861	U	0.068026	T	0.81230	0.4779	M	0.81112	2.525	0.45502	D	0.998465	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	D	0.86081	0.1544	9	0.72032	D	0.01	.	11.6544	0.51309	0.0:0.0696:0.0:0.9304	.	127;111;111	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	D	127;127;127;111;111	ENSP00000417335:V127D;ENSP00000417164:V111D;ENSP00000327536:V111D	ENSP00000327536:V111D	V	+	2	0	ROBO2	77230125	1.000000	0.71417	0.990000	0.47175	0.011000	0.07611	6.305000	0.72805	0.948000	0.37687	-0.264000	0.10439	GTT		0.488	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO1	6091	broad.mit.edu	37	3	78663874	78663874	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:78663874G>A	ENST00000464233.1	-	28	4472	c.4359C>T	c.(4357-4359)gcC>gcT	p.A1453A	ROBO1_ENST00000495273.1_Silent_p.A1408A|ROBO1_ENST00000467549.1_Silent_p.A1353A|ROBO1_ENST00000436010.2_Silent_p.A1414A	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1453					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.A1430A(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTGCATTACGGCGGCACTCA	0.488																																					p.A1453A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4359T	3						.						109.0	113.0	112.0					3																	78663874		1977	4151	6128	78746564	SO:0001819	synonymous_variant	6091	exon28			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.4359C>T	3.37:g.78663874G>A			78746564	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	CCDS54611.1																																																																																				0.488	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
DHX36	170506	broad.mit.edu	37	3	154042165	154042165	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:154042165delC	ENST00000496811.1	-	1	121	c.41delG	c.(40-42)ggtfs	p.G14fs	DHX36_ENST00000308361.6_Frame_Shift_Del_p.G14fs|DHX36_ENST00000329463.5_Frame_Shift_Del_p.G14fs|DHX36_ENST00000544526.1_Frame_Shift_Del_p.G14fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	14	Gly-rich.|RNA-binding; sufficient and required for recruitment to cytoplasmic stress granules.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.G14fs*44(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCTGCGGGGACCCCCATCACG	0.672																																					p.G14fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.41delG	3						.						12.0	16.0	15.0					3																	154042165		2200	4295	6495	155524859	SO:0001589	frameshift_variant	170506	exon1			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.41delG	3.37:g.154042165delC	ENSP00000417078:p.Gly14fs		155524859	NM_001114397	B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Del	DEL	ENST00000496811.1	37	CCDS3171.1																																																																																				0.672	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865	
MCF2L2	23101	broad.mit.edu	37	3	182994664	182994664	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:182994664delG	ENST00000328913.3	-	15	2155	c.1858delC	c.(1858-1860)cgcfs	p.R622fs	MCF2L2_ENST00000447025.2_Frame_Shift_Del_p.R622fs|MCF2L2_ENST00000473233.1_Frame_Shift_Del_p.R622fs|MCF2L2_ENST00000414362.2_Frame_Shift_Del_p.R621fs	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	622	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.		R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.				Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R620fs*16(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)			TCTTACCTGCGGGGGGAAAGG	0.567																																					p.R620fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1858delC	3						.						23.0	23.0	23.0					3																	182994664		2203	4300	6503	184477358	SO:0001589	frameshift_variant	23101	exon15			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.1858delC	3.37:g.182994664delG	ENSP00000328118:p.Arg622fs		184477358	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Frame_Shift_Del	DEL	ENST00000328913.3	37	CCDS3243.1																																																																																				0.567	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
ETV5	2119	broad.mit.edu	37	3	185797801	185797801	+	Frame_Shift_Del	DEL	G	G	-	rs537105512		TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:185797801delG	ENST00000306376.5	-	7	701	c.455delC	c.(454-456)ccafs	p.P153fs	ETV5_ENST00000537818.1_Frame_Shift_Del_p.P195fs|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Frame_Shift_Del_p.P153fs	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	153					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P152fs*55(1)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TGCCTGAGGTGGGGGAAATAG	0.617			T	"""TMPRSS2, SCL45A3"""	Prostate																																p.P152fs			Dom	yes		3	3q28	2119	ets variant gene 5		E	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.455delC	3						.																																			187280495	SO:0001589	frameshift_variant	2119	exon7			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.455delC	3.37:g.185797801delG	ENSP00000306894:p.Pro153fs		187280495	NM_004454	A6NH46|B7Z7D7|Q6IBN5	Frame_Shift_Del	DEL	ENST00000306376.5	37	CCDS33906.1																																																																																				0.617	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454	
LRRC15	131578	broad.mit.edu	37	3	194080363	194080363	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr3:194080363G>A	ENST00000347624.3	-	2	1495	c.1410C>T	c.(1408-1410)aaC>aaT	p.N470N	LRRC15_ENST00000439944.2_Silent_p.N476N|LRRC15_ENST00000428839.1_Silent_p.N476N	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	470	LRRCT.				negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.N470N(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GAACAGCAACGTTGACATTGA	0.547																																					p.N470N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1410T	3						.						145.0	126.0	132.0					3																	194080363		2203	4300	6503	195561658	SO:0001819	synonymous_variant	131578	exon2			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1410C>T	3.37:g.194080363G>A			195561658	NM_130830	Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	CCDS3306.1																																																																																				0.547	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2		
MYBPC1	4604	broad.mit.edu	37	12	102036272	102036272	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:102036272C>T	ENST00000550270.1	+	9	666	c.666C>T	c.(664-666)taC>taT	p.Y222Y	MYBPC1_ENST00000441232.1_Silent_p.Y222Y|MYBPC1_ENST00000541119.1_Silent_p.Y210Y|MYBPC1_ENST00000360610.2_Silent_p.Y222Y|MYBPC1_ENST00000361685.2_Silent_p.Y247Y|MYBPC1_ENST00000547405.1_Silent_p.Y196Y|MYBPC1_ENST00000392934.3_Silent_p.Y209Y|MYBPC1_ENST00000547509.1_Silent_p.Y208Y|MYBPC1_ENST00000452455.2_Silent_p.Y222Y|MYBPC1_ENST00000361466.2_Silent_p.Y247Y|MYBPC1_ENST00000549145.1_Silent_p.Y235Y|MYBPC1_ENST00000551300.1_Silent_p.Y123Y|MYBPC1_ENST00000545503.2_Silent_p.Y222Y|MYBPC1_ENST00000553190.1_Silent_p.Y222Y|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Silent_p.Y203Y			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	222					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)			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						CCAGTGAGTACGAGAAGATCG	0.577																																					p.Y247Y												.	.	0			c.C741T	12						.						119.0	96.0	104.0					12																	102036272		2203	4300	6503	100560403	SO:0001819	synonymous_variant	4604	exon11				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.666C>T	12.37:g.102036272C>T			100560403	NM_002465	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	CCDS9085.1																																																																																				0.577	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1		
STAB2	55576	broad.mit.edu	37	12	104083732	104083732	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:104083732T>A	ENST00000388887.2	+	29	3358	c.3154T>A	c.(3154-3156)Tca>Aca	p.S1052T		NM_017564.9	NP_060034.9			stabilin 2									p.S1052T(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						CTTCTGGTTGTCACAGAGCAA	0.428																																					p.S1052T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3154A	12						.						177.0	159.0	165.0					12																	104083732		2203	4300	6503	102607862	SO:0001583	missense	55576	exon29			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.3154T>A	12.37:g.104083732T>A	ENSP00000373539:p.Ser1052Thr		102607862	NM_017564		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	T	8.043	0.764201	0.15914	.	.	ENSG00000136011	ENST00000388887	D	0.92048	-2.96	5.75	4.6	0.57074	FAS1 domain (5);Growth factor, receptor (1);	0.345452	0.29396	N	0.012270	D	0.83055	0.5171	N	0.17312	0.475	0.32144	N	0.585089	B	0.12630	0.006	B	0.20184	0.028	T	0.75703	-0.3225	10	0.11485	T	0.65	.	10.1342	0.42697	0.4053:0.0:0.0:0.5947	.	1052	Q8WWQ8	STAB2_HUMAN	T	1052	ENSP00000373539:S1052T	ENSP00000373539:S1052T	S	+	1	0	STAB2	102607862	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	0.508000	0.22692	1.100000	0.41517	0.528000	0.53228	TCA		0.428	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
RFX4	5992	broad.mit.edu	37	12	106995106	106995106	+	Intron	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:106995106C>T	ENST00000392842.1	+	2	457				RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Nonsense_Mutation_p.R18*	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)						cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R18*(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GACCAGGCCTCGACGGCGCCG	0.667																																					p.R18X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C52T	12						.						40.0	32.0	35.0					12																	106995106		2200	4293	6493	105519236	SO:0001627	intron_variant	5992	exon1			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.44-7469C>T	12.37:g.106995106C>T			105519236	NM_002920	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Nonsense_Mutation	SNP	ENST00000392842.1	37	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064702	0.76187	.	.	ENSG00000111783	ENST00000357881;ENST00000266774	.	.	.	3.87	-6.87	0.01671	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	21.3108	7.2008	0.25879	0.0:0.1539:0.2427:0.6034	.	.	.	.	X	18	.	ENSP00000266774:R18X	R	+	1	2	RFX4	105519236	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-3.822000	0.00357	-1.650000	0.01506	0.609000	0.83330	CGA		0.667	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491	
CRY1	1407	broad.mit.edu	37	12	107486655	107486655	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:107486655C>T	ENST00000008527.5	-	1	952	c.85G>A	c.(85-87)Gac>Aac	p.D29N	CRY1_ENST00000550633.1_5'UTR|RP11-797M17.1_ENST00000547679.1_RNA	NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	29	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.D29N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CGGATGGTGTCGGCGCCCTGA	0.667											OREG0022082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D29N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G85A	12						.						30.0	27.0	28.0					12																	107486655		2202	4299	6501	106010785	SO:0001583	missense	1407	exon1			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.85G>A	12.37:g.107486655C>T	ENSP00000008527:p.Asp29Asn	1405	106010785	NM_004075		Missense_Mutation	SNP	ENST00000008527.5	37	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179480	0.57800	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.71	4.8	0.61643	Rossmann-like alpha/beta/alpha sandwich fold (1);DNA photolyase, N-terminal (2);	0.047445	0.85682	D	0.000000	T	0.66257	0.2771	M	0.70903	2.155	0.58432	D	0.999997	B	0.13594	0.008	B	0.13407	0.009	T	0.62562	-0.6828	9	0.27785	T	0.31	3.9771	16.2645	0.82568	0.0:0.8671:0.1329:0.0	.	29	Q16526	CRY1_HUMAN	N	29	.	ENSP00000008527:D29N	D	-	1	0	CRY1	106010785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.764000	0.68826	1.372000	0.46190	0.561000	0.74099	GAC		0.667	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075	
WSCD2	9671	broad.mit.edu	37	12	108603967	108603967	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:108603967C>T	ENST00000332082.4	+	5	1385	c.567C>T	c.(565-567)aaC>aaT	p.N189N	WSCD2_ENST00000549903.1_Silent_p.N189N|WSCD2_ENST00000261400.3_Silent_p.N189N|WSCD2_ENST00000547525.1_Silent_p.N189N			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	189	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)		p.N189N(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						AGGCGACGAACGTGAGCGAGG	0.672																																					p.N189N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C567T	12						.						33.0	40.0	37.0					12																	108603967		2202	4295	6497	107128097	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.567C>T	12.37:g.108603967C>T			107128097	NM_014653	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	CCDS41828.1																																																																																				0.672	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	
SSH1	54434	broad.mit.edu	37	12	109182258	109182258	+	Missense_Mutation	SNP	C	C	T	rs190071016		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:109182258C>T	ENST00000326495.5	-	15	2749	c.2656G>A	c.(2656-2658)Gcc>Acc	p.A886T	SSH1_ENST00000360239.3_Missense_Mutation_p.A574T	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	886					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A886T(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAAGCGGGGGCGGCCTCTGAC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		16529	0.0		0.001	False		,,,				2504	0.0				p.A886T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2656A	12						.	C	THR/ALA	0,4396		0,0,2198	23.0	27.0	26.0		2656	-2.1	0.0	12		26	2,8594		0,2,4296	no	missense	SSH1	NM_018984.3	58	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	benign	886/1050	109182258	2,12990	2198	4298	6496	107706387	SO:0001583	missense	54434	exon15			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2656G>A	12.37:g.109182258C>T	ENSP00000315713:p.Ala886Thr		107706387	NM_018984	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	3.741	-0.053624	0.07362	0.0	2.33E-4	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.10573	3.08;2.86	4.43	-2.11	0.07187	.	2.805710	0.01412	N	0.014030	T	0.04497	0.0123	N	0.08118	0	0.09310	N	1	B;B	0.21381	0.004;0.055	B;B	0.10450	0.001;0.005	T	0.23904	-1.0175	10	0.13470	T	0.59	0.5507	1.0252	0.01526	0.1369:0.2524:0.2683:0.3423	.	886;574	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	T	574;886	ENSP00000353374:A574T;ENSP00000315713:A886T	ENSP00000315713:A886T	A	-	1	0	SSH1	107706387	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.441000	0.01015	-0.712000	0.04988	-0.882000	0.02950	GCC		0.612	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984	
DAO	1610	broad.mit.edu	37	12	109293196	109293196	+	Missense_Mutation	SNP	G	G	A	rs566264618		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:109293196G>A	ENST00000228476.3	+	10	1061	c.857G>A	c.(856-858)cGc>cAc	p.R286H	DAO_ENST00000551281.1_Missense_Mutation_p.R220H	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	286					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)	p.R286H(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	CGGCCAGTACGCCCCCAGATT	0.468													g|||	1	0.000199681	0.0	0.0	5008	,	,		23561	0.0		0.0	False		,,,				2504	0.001				p.R286H												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G857A	12						.						43.0	36.0	38.0					12																	109293196		2203	4300	6503	107817325	SO:0001583	missense	1610	exon10			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.857G>A	12.37:g.109293196G>A	ENSP00000228476:p.Arg286His		107817325	NM_001917	B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	g	16.65	3.180959	0.57800	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547768	D;D;D	0.81499	-1.5;-1.5;-1.5	4.88	4.88	0.63580	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92977	0.7765	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.95251	0.8360	10	0.87932	D	0	-18.7759	15.5113	0.75786	0.0:0.0:1.0:0.0	.	286;269	P14920;Q7Z312	OXDA_HUMAN;.	H	220;286;163	ENSP00000446853:R220H;ENSP00000228476:R286H;ENSP00000449967:R163H	ENSP00000228476:R286H	R	+	2	0	DAO	107817325	1.000000	0.71417	0.476000	0.27291	0.090000	0.18270	7.514000	0.81750	2.258000	0.74832	0.542000	0.68232	CGC		0.468	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1		
FOXN4	121643	broad.mit.edu	37	12	109719496	109719496	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:109719496G>A	ENST00000299162.5	-	9	1114	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	FOXN4_ENST00000355216.1_Missense_Mutation_p.A157V	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	337					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.A157V(1)|p.A337V(1)		large_intestine(5)|lung(9)|ovary(2)	16						GCAGCCATGCGCCACGGCCAC	0.687																																					p.A337V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1010T	12						.						24.0	17.0	19.0					12																	109719496		2192	4292	6484	108203879	SO:0001583	missense	121643	exon9			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.1010C>T	12.37:g.109719496G>A	ENSP00000299162:p.Ala337Val		108203879	NM_213596	Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389550	0.25118	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.95069	-3.6;-3.18	5.1	3.09	0.35607	.	1.822880	0.02849	N	0.128887	D	0.91991	0.7463	L	0.44542	1.39	0.36604	D	0.874844	B;B	0.23650	0.089;0.089	B;B	0.15484	0.013;0.009	T	0.81293	-0.0998	10	0.52906	T	0.07	3.0028	8.642	0.33983	0.0:0.1468:0.5512:0.302	.	337;337	A6H901;Q96NZ1	.;FOXN4_HUMAN	V	157;337	ENSP00000347354:A157V;ENSP00000299162:A337V	ENSP00000299162:A337V	A	-	2	0	FOXN4	108203879	1.000000	0.71417	0.813000	0.32504	0.125000	0.20455	3.202000	0.51067	1.240000	0.43803	0.555000	0.69702	GCG		0.687	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735	
IFT81	28981	broad.mit.edu	37	12	110600740	110600740	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:110600740G>A	ENST00000242591.5	+	11	1564	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	IFT81_ENST00000549009.1_3'UTR|IFT81_ENST00000552912.1_Missense_Mutation_p.R353H|IFT81_ENST00000361948.4_Missense_Mutation_p.R353H	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	353					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)	p.R353H(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						ATCATTTCCCGTAAAAAAGAA	0.348																																					p.R353H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1058A	12						.						72.0	69.0	70.0					12																	110600740		2203	4300	6503	109085123	SO:0001583	missense	28981	exon11			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1058G>A	12.37:g.110600740G>A	ENSP00000242591:p.Arg353His		109085123	NM_001143779	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711966	0.48517	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	T	0.37058	1.22	5.42	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.54323	1.7	0.80722	D	1	B;B	0.20887	0.049;0.035	B;B	0.20577	0.03;0.016	T	0.12400	-1.0549	10	0.44086	T	0.13	-5.5965	12.6712	0.56868	0.0765:0.0:0.9235:0.0	.	353;353	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	H	353;353;353;323	ENSP00000355372:R353H	ENSP00000242591:R353H	R	+	2	0	IFT81	109085123	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.287000	0.59001	1.303000	0.44873	-0.137000	0.14449	CGT		0.348	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055	
TAS2R14	50840	broad.mit.edu	37	12	11091497	11091497	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:11091497C>T	ENST00000537503.1	-	1	365	c.310G>A	c.(310-312)Ggt>Agt	p.G104S	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	104					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.G104S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TAAAAAGTACCGAGGCCTGTA	0.368																																					p.G104S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310A	12						.						48.0	49.0	49.0					12																	11091497		2202	4300	6502	10982764	SO:0001583	missense	50840	exon1			AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.310G>A	12.37:g.11091497C>T	ENSP00000441949:p.Gly104Ser		10982764	NM_023922	Q645X3	Missense_Mutation	SNP	ENST00000537503.1	37	CCDS8637.1	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.299966	0.01364	.	.	ENSG00000212127	ENST00000537503	T	0.26223	1.75	4.03	1.62	0.23740	.	0.407670	0.21546	N	0.072804	T	0.04998	0.0134	N	0.01081	-1.03	0.09310	N	1	B	0.31730	0.337	B	0.22152	0.038	T	0.39014	-0.9634	10	0.02654	T	1	.	5.5135	0.16894	0.0:0.2407:0.0:0.7593	.	104	Q9NYV8	T2R14_HUMAN	S	104	ENSP00000441949:G104S	ENSP00000375094:G104S	G	-	1	0	TAS2R14	10982764	0.901000	0.30685	0.003000	0.11579	0.004000	0.04260	1.247000	0.32815	0.225000	0.20959	-0.320000	0.08662	GGT		0.368	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370194.4	NM_023922	
HVCN1	84329	broad.mit.edu	37	12	111093101	111093101	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:111093101G>A	ENST00000356742.5	-	4	1102	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F	HVCN1_ENST00000242607.8_Missense_Mutation_p.L117F|HVCN1_ENST00000548312.1_Missense_Mutation_p.L117F|HVCN1_ENST00000439744.2_Missense_Mutation_p.L97F			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	117					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)	p.L117F(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGCTCAGCAAGCACCAGGAGG	0.557																																					p.L117F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C349T	12						.						157.0	126.0	137.0					12																	111093101		2203	4300	6503	109577484	SO:0001583	missense	84329	exon5			BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.349C>T	12.37:g.111093101G>A	ENSP00000349181:p.Leu117Phe		109577484	NM_032369	A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821104	0.71028	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.79475	2.455	0.58432	D	0.999999	P;D	0.89917	0.911;1.0	B;D	0.79108	0.311;0.992	D	0.99478	1.0947	10	0.72032	D	0.01	-29.633	18.7697	0.91887	0.0:0.0:1.0:0.0	.	117;117	Q96D96;Q96D96-3	HVCN1_HUMAN;.	F	117;117;117;97	ENSP00000449601:L117F;ENSP00000242607:L117F;ENSP00000349181:L117F;ENSP00000412052:L97F	ENSP00000242607:L117F	L	-	1	0	HVCN1	109577484	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	5.568000	0.67385	2.443000	0.82685	0.462000	0.41574	CTT		0.557	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369	
NOS1	4842	broad.mit.edu	37	12	117715878	117715878	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:117715878G>A	ENST00000338101.4	-	8	1554	c.1550C>T	c.(1549-1551)cCg>cTg	p.P517L	NOS1_ENST00000317775.6_Missense_Mutation_p.P517L|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.P517L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GCCTCTAGGCGGTTTCCAGCC	0.582																																					p.P517L	Esophageal Squamous(162;1748 2599 51982 52956)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1550T	12						.						46.0	52.0	50.0					12																	117715878		1945	4141	6086	116200261	SO:0001583	missense	4842	exon9				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1550C>T	12.37:g.117715878G>A	ENSP00000337459:p.Pro517Leu		116200261	NM_000620		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946314	0.73672	.	.	ENSG00000089250	ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.46819	0.86;0.86	5.27	5.27	0.74061	Nitric oxide synthase, oxygenase domain (2);	0.152968	0.56097	D	0.000021	T	0.63850	0.2546	M	0.85373	2.75	0.80722	D	1	P	0.36587	0.559	B	0.44133	0.442	T	0.69146	-0.5222	10	0.72032	D	0.01	-20.2874	19.1369	0.93431	0.0:0.0:1.0:0.0	.	517	P29475	NOS1_HUMAN	L	517	ENSP00000320758:P517L;ENSP00000337459:P517L	ENSP00000320758:P517L	P	-	2	0	NOS1	116200261	1.000000	0.71417	0.988000	0.46212	0.312000	0.27988	9.529000	0.98049	2.759000	0.94783	0.555000	0.69702	CCG		0.582	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
NOS1	4842	broad.mit.edu	37	12	117723955	117723955	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:117723955C>T	ENST00000338101.4	-	5	1248	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	NOS1_ENST00000317775.6_Missense_Mutation_p.R415Q|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.R415Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CGAGGCATTCCGCCAGGCGTG	0.547																																					p.R415Q	Esophageal Squamous(162;1748 2599 51982 52956)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1244A	12						.						144.0	145.0	144.0					12																	117723955		2166	4296	6462	116208338	SO:0001583	missense	4842	exon6				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1244G>A	12.37:g.117723955C>T	ENSP00000337459:p.Arg415Gln		116208338	NM_000620		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	36	5.694354	0.96793	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.61859	0.07;0.07	4.93	4.93	0.64822	Nitric oxide synthase, oxygenase domain (3);	0.000000	0.85682	D	0.000000	D	0.83783	0.5329	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.89256	0.3594	10	0.87932	D	0	-24.7757	18.3299	0.90264	0.0:1.0:0.0:0.0	.	415	P29475	NOS1_HUMAN	Q	415	ENSP00000320758:R415Q;ENSP00000337459:R415Q	ENSP00000320758:R415Q	R	-	2	0	NOS1	116208338	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.562000	0.82300	2.559000	0.86315	0.591000	0.81541	CGG		0.547	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
CIT	11113	broad.mit.edu	37	12	120150414	120150414	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:120150414C>T	ENST00000261833.7	-	35	4592	c.4540G>A	c.(4540-4542)Gca>Aca	p.A1514T	MIR1178_ENST00000408396.1_RNA|CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.A1556T	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1514	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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.A1542T(1)|p.A1514T(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)		GCTGTATTTGCGAGTTCGGAA	0.602																																					p.A1514T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4540A	12						.						65.0	64.0	64.0					12																	120150414		2203	4300	6503	118634797	SO:0001583	missense	11113	exon35			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.4540G>A	12.37:g.120150414C>T	ENSP00000261833:p.Ala1514Thr		118634797	NM_007174	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539968	0.27563	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.63580	-0.03;-0.05	5.92	5.92	0.95590	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.366802	0.28754	N	0.014248	T	0.38746	0.1052	N	0.08118	0	0.25649	N	0.986114	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.14755	-1.0461	10	0.24483	T	0.36	.	9.2144	0.37337	0.1482:0.7733:0.0:0.0784	.	1556;1514;1032	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	T	1556;1514	ENSP00000376306:A1556T;ENSP00000261833:A1514T	ENSP00000261833:A1514T	A	-	1	0	CIT	118634797	0.018000	0.18449	1.000000	0.80357	0.987000	0.75469	0.222000	0.17699	2.795000	0.96236	0.655000	0.94253	GCA		0.602	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
CIT	11113	broad.mit.edu	37	12	120172014	120172014	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:120172014C>T	ENST00000261833.7	-	25	3231	c.3179G>A	c.(3178-3180)cGg>cAg	p.R1060Q	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.R1102Q	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1060					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.R1103Q(1)|p.R1060Q(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)		CTCTCGAACCCGACACTCAAA	0.557																																					p.R1060Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3179A	12						.						125.0	105.0	112.0					12																	120172014		2203	4300	6503	118656397	SO:0001583	missense	11113	exon25			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3179G>A	12.37:g.120172014C>T	ENSP00000261833:p.Arg1060Gln		118656397	NM_007174	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.490276|5.490276	0.96339|0.96339	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833;ENST00000546026	.|T;T;T	.|0.65178	.|-0.12;-0.14;1.74	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.71117|0.71117	0.3302|0.3302	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;0.997;0.997	.|D;D;P	.|0.79108	.|0.992;0.968;0.811	T|T	0.72574|0.72574	-0.4252|-0.4252	5|10	.|0.51188	.|T	.|0.08	.|.	19.0703|19.0703	0.93130|0.93130	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1102;1060;593	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	R|Q	688|1102;1060;102	.|ENSP00000376306:R1102Q;ENSP00000261833:R1060Q;ENSP00000446105:R102Q	.|ENSP00000261833:R1060Q	G|R	-|-	1|2	0|0	CIT|CIT	118656397|118656397	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	7.818000|7.818000	0.86416|0.86416	2.508000|2.508000	0.84585|0.84585	0.467000|0.467000	0.42956|0.42956	GGG|CGG		0.557	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
SNRNP35	11066	broad.mit.edu	37	12	123950499	123950499	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:123950499C>T	ENST00000526639.2	+	2	991	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	SNRNP35_ENST00000350887.5_Missense_Mutation_p.R138W|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R143W|SNRNP35_ENST00000527158.2_Intron	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	138					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R138W(1)		NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GTGGATCCCTCGGCGACTTGG	0.517																																					p.R138W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C412T	12						.						87.0	94.0	92.0					12																	123950499		2203	4300	6503	122516452	SO:0001583	missense	11066	exon2			BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"""RNA binding motif (RRM) containing"""	30852	protein-coding gene	gene with protein product	"""U1 snRNP binding protein homolog"""					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.412C>T	12.37:g.123950499C>T	ENSP00000432595:p.Arg138Trp		122516452	NM_022717	A8K262|Q5XKN9	Missense_Mutation	SNP	ENST00000526639.2	37	CCDS9249.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477646	0.84640	.	.	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.76186	-1.0;-1.0;-1.0	5.66	3.73	0.42828	Nucleotide-binding, alpha-beta plait (1);	0.060946	0.64402	D	0.000003	D	0.86108	0.5854	M	0.87097	2.86	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87541	0.2459	10	0.87932	D	0	-20.8623	10.4268	0.44383	0.1338:0.7967:0.0:0.0695	.	143;138	Q16560-2;Q16560	.;U1SBP_HUMAN	W	138;143;138	ENSP00000432595:R138W;ENSP00000403310:R143W;ENSP00000340774:R138W	ENSP00000340774:R138W	R	+	1	2	SNRNP35	122516452	0.997000	0.39634	0.983000	0.44433	0.998000	0.95712	3.572000	0.53849	1.420000	0.47138	0.555000	0.69702	CGG		0.517	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	NM_007020	
TMED2	10959	broad.mit.edu	37	12	124069314	124069314	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:124069314G>A	ENST00000262225.3	+	1	237	c.131G>A	c.(130-132)gGc>gAc	p.G44D	RP11-486O12.2_ENST00000498967.2_lincRNA|TMED2_ENST00000509052.2_5'Flank	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	44	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)		p.G44D(1)		kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		ACCAAGATGGGCCTCATCTTC	0.652																																					p.G44D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G131A	12						.						64.0	61.0	62.0					12																	124069314		2203	4300	6503	122635267	SO:0001583	missense	10959	exon1			X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.131G>A	12.37:g.124069314G>A	ENSP00000262225:p.Gly44Asp		122635267	NM_006815		Missense_Mutation	SNP	ENST00000262225.3	37	CCDS9250.1	.	.	.	.	.	.	.	.	.	.	G	36	5.717731	0.96839	.	.	ENSG00000086598	ENST00000262225;ENST00000438031;ENST00000541504	T;T	0.16457	2.34;2.34	4.29	4.29	0.51040	GOLD (3);	0.057598	0.64402	D	0.000001	T	0.47377	0.1442	M	0.94021	3.485	0.80722	D	1	D	0.53151	0.958	P	0.60541	0.876	T	0.58014	-0.7711	10	0.17369	T	0.5	-17.5601	17.2745	0.87111	0.0:0.0:1.0:0.0	.	44	Q15363	TMED2_HUMAN	D	44	ENSP00000262225:G44D;ENSP00000405845:G44D	ENSP00000262225:G44D	G	+	2	0	TMED2	122635267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.599000	0.74127	2.371000	0.80710	0.591000	0.81541	GGC		0.652	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400606.1	NM_006815	
DDX55	57696	broad.mit.edu	37	12	124093312	124093312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:124093312C>T	ENST00000238146.4	+	6	537	c.487C>T	c.(487-489)Cga>Tga	p.R163*	DDX55_ENST00000538744.1_Nonsense_Mutation_p.R163*	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	163	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R163*(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CAGCTGTGTGCGATCCCTGGA	0.552																																					p.R163X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C487T	12						.						148.0	136.0	140.0					12																	124093312		2203	4300	6503	122659265	SO:0001587	stop_gained	57696	exon6			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.487C>T	12.37:g.124093312C>T	ENSP00000238146:p.Arg163*		122659265	NM_020936	Q658L6|Q8IYH0|Q9HCH7	Nonsense_Mutation	SNP	ENST00000238146.4	37	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702496	0.68501	.	.	ENSG00000111364	ENST00000238146;ENST00000538449;ENST00000538744	.	.	.	5.45	-1.68	0.08212	.	0.253789	0.42964	D	0.000628	.	.	.	.	.	.	0.52501	D	0.999958	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-22.6613	16.5664	0.84599	0.371:0.629:0.0:0.0	.	.	.	.	X	163	.	ENSP00000238146:R163X	R	+	1	2	DDX55	122659265	0.967000	0.33354	0.022000	0.16811	0.987000	0.75469	2.461000	0.45040	-0.550000	0.06183	0.563000	0.77884	CGA		0.552	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2		
NCOR2	9612	broad.mit.edu	37	12	124840068	124840068	+	Silent	SNP	C	C	T	rs368708782		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:124840068C>T	ENST00000405201.1	-	24	3291	c.3291G>A	c.(3289-3291)ccG>ccA	p.P1097P	NCOR2_ENST00000404621.1_Silent_p.P1087P|NCOR2_ENST00000429285.2_Silent_p.P1087P|NCOR2_ENST00000356219.3_Silent_p.P1104P|NCOR2_ENST00000404121.2_Silent_p.P658P|NCOR2_ENST00000397355.1_Silent_p.P1088P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1105					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.P1104P(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGGGTGGGCGCGGCAGGACGG	0.652																																					p.P1104P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3312A	12						.	T	,,	1,4237		0,1,2118	47.0	68.0	61.0		3261,3261,3291	-9.9	0.0	12		61	0,8398		0,0,4199	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	,,	0,1,6317	TT,TC,CC		0.0,0.0236,0.0079	,,	1087/2459,1087/2505,1097/2515	124840068	1,12635	2119	4199	6318	123406021	SO:0001819	synonymous_variant	9612	exon26			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3291G>A	12.37:g.124840068C>T			123406021	NM_006312	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																				0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
NCOR2	9612	broad.mit.edu	37	12	124887093	124887093	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:124887093C>T	ENST00000405201.1	-	14	1497	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000356219.3_Silent_p.Q499Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.Q499Q(9)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgct	0.617																																					p.Q499Q												.	.	9	Substitution - coding silent(9)	endometrium(4)|large_intestine(3)|kidney(2)	c.G1497A	12						.						9.0	10.0	10.0					12																	124887093		2051	4183	6234	123453046	SO:0001819	synonymous_variant	9612	exon16			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1497G>A	12.37:g.124887093C>T			123453046	NM_006312	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																				0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
AACS	65985	broad.mit.edu	37	12	125621309	125621309	+	Missense_Mutation	SNP	G	G	A	rs200966429		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:125621309G>A	ENST00000316519.6	+	17	1986	c.1780G>A	c.(1780-1782)Gcc>Acc	p.A594T	AACS_ENST00000316543.10_Missense_Mutation_p.A192T|AACS_ENST00000261686.6_Intron|AACS_ENST00000545511.1_Intron|AACS_ENST00000543665.1_Intron	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	594					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)	p.A594T(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CTCCGGGCACGCCTTCCAGCC	0.597																																					p.A594T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1780A	12						.						127.0	104.0	112.0					12																	125621309		2203	4300	6503	124187262	SO:0001583	missense	65985	exon17			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1780G>A	12.37:g.125621309G>A	ENSP00000324842:p.Ala594Thr		124187262	NM_023928	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.737495	0.00681	.	.	ENSG00000081760	ENST00000316519;ENST00000316543;ENST00000539251;ENST00000536118	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.3	-10.6	0.00265	.	1.482540	0.03526	N	0.221799	T	0.04679	0.0127	N	0.12527	0.23	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18524	-1.0334	10	0.12766	T	0.61	.	8.0298	0.30459	0.1175:0.0666:0.4847:0.3313	.	594	Q86V21	AACS_HUMAN	T	594;192;59;149	ENSP00000324842:A594T;ENSP00000324929:A192T;ENSP00000439151:A59T;ENSP00000441331:A149T	ENSP00000324842:A594T	A	+	1	0	AACS	124187262	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.459000	0.02370	-4.807000	0.00031	-1.288000	0.01363	GCC		0.597	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928	
TMEM132D	121256	broad.mit.edu	37	12	130184847	130184847	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:130184847C>T	ENST00000422113.2	-	2	802	c.476G>A	c.(475-477)cGc>cAc	p.R159H	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	159					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.R159H(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCCGGCGCTGCGGTCGTCCCA	0.632																																					p.R159H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G476A	12						.						23.0	24.0	24.0					12																	130184847		2203	4300	6503	128750800	SO:0001583	missense	121256	exon2			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.476G>A	12.37:g.130184847C>T	ENSP00000408581:p.Arg159His		128750800	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	3.410	-0.120411	0.06838	.	.	ENSG00000151952	ENST00000422113	T	0.11604	2.76	5.33	-8.28	0.01013	.	0.947996	0.08798	N	0.892180	T	0.02156	0.0067	N	0.00729	-1.24	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47774	-0.9091	9	.	.	.	-2.6295	8.7331	0.34512	0.0:0.3706:0.3162:0.3132	.	159	Q14C87	T132D_HUMAN	H	159	ENSP00000408581:R159H	.	R	-	2	0	TMEM132D	128750800	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	0.175000	0.16762	-2.000000	0.00965	-0.378000	0.06908	CGC		0.632	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
TULP3	7289	broad.mit.edu	37	12	3040268	3040268	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:3040268C>T	ENST00000448120.2	+	6	609	c.558C>T	c.(556-558)gaC>gaT	p.D186D	TULP3_ENST00000397132.2_Silent_p.D186D|RNU7-166P_ENST00000459397.1_RNA	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	186					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)	p.D186D(1)		endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GAGACATAGACGACCTGGAGG	0.532																																					p.D186D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C558T	12						.						119.0	116.0	117.0					12																	3040268		2203	4300	6503	2910529	SO:0001819	synonymous_variant	7289	exon6			AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.558C>T	12.37:g.3040268C>T			2910529	NM_001160408	B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	De_novo_Start_InFrame	SNP	ENST00000448120.2	37	CCDS8519.1																																																																																				0.532	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324	
PRMT8	56341	broad.mit.edu	37	12	3692311	3692311	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:3692311G>A	ENST00000382622.3	+	8	1306	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	PRMT8_ENST00000452611.2_Missense_Mutation_p.A297T|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	306	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.A306T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTACGTCCACGCCCTGGTCAC	0.498																																					p.A306T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G916A	12						.						96.0	77.0	84.0					12																	3692311		2203	4300	6503	3562572	SO:0001583	missense	56341	exon8			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.916G>A	12.37:g.3692311G>A	ENSP00000372067:p.Ala306Thr		3562572	NM_019854	B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692116	0.88735	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.78595	-1.19;-1.19	5.55	5.55	0.83447	.	0.047145	0.85682	D	0.000000	D	0.90469	0.7015	H	0.95850	3.73	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.57425	0.82;0.67	D	0.93312	0.6685	10	0.87932	D	0	.	17.0578	0.86539	0.0:0.0:1.0:0.0	.	297;306	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	T	297;306	ENSP00000414507:A297T;ENSP00000372067:A306T	ENSP00000372067:A306T	A	+	1	0	PRMT8	3562572	1.000000	0.71417	0.996000	0.52242	0.520000	0.34377	9.869000	0.99810	2.625000	0.88918	0.650000	0.86243	GCC		0.498	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854	
VWF	7450	broad.mit.edu	37	12	6103073	6103073	+	Missense_Mutation	SNP	G	G	A	rs569962285		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:6103073G>A	ENST00000261405.5	-	37	6807	c.6553C>T	c.(6553-6555)Cgg>Tgg	p.R2185W		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2185			R -> Q (in dbSNP:rs2229446).		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.R2185W(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)	CCGTTGGTCCGACAGAGGTGG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		17412	0.0		0.0	False		,,,				2504	0.001				p.R2185W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6553T	12						.						72.0	60.0	64.0					12																	6103073		2203	4300	6503	5973334	SO:0001583	missense	7450	exon37				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.6553C>T	12.37:g.6103073G>A	ENSP00000261405:p.Arg2185Trp		5973334	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616046	0.87359	.	.	ENSG00000110799	ENST00000261405	T	0.77620	-1.11	5.3	5.3	0.74995	Uncharacterised domain, cysteine-rich (2);	0.000000	0.40385	N	0.001115	D	0.90154	0.6923	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91849	0.5490	10	0.72032	D	0.01	.	11.7774	0.51993	0.0:0.0:0.7203:0.2797	.	2185	P04275	VWF_HUMAN	W	2185	ENSP00000261405:R2185W	ENSP00000261405:R2185W	R	-	1	2	VWF	5973334	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.942000	0.49018	2.482000	0.83794	0.655000	0.94253	CGG		0.557	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
CHD4	1108	broad.mit.edu	37	12	6696613	6696613	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:6696613G>A	ENST00000357008.2	-	25	3979	c.3816C>T	c.(3814-3816)ggC>ggT	p.G1272G	CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000309577.6_Silent_p.G1272G|CHD4_ENST00000544484.1_Silent_p.G1269G|CHD4_ENST00000544040.1_Silent_p.G1265G|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1272					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.G1272G(1)		central_nervous_system(2)	2						ATTCATTCATGCCCTGCAATT	0.458																																					p.G1272G	Colon(32;586 792 4568 16848 45314)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3816T	12						.						228.0	191.0	203.0					12																	6696613		2203	4300	6503	6566874	SO:0001819	synonymous_variant	1108	exon25			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.3816C>T	12.37:g.6696613G>A			6566874	NM_001273	Q8IXZ5	Silent	SNP	ENST00000357008.2	37	CCDS8552.1																																																																																				0.458	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
MLF2	8079	broad.mit.edu	37	12	6858070	6858070	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:6858070C>T	ENST00000203630.5	-	8	1282	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	MLF2_ENST00000435120.1_Missense_Mutation_p.R213Q|MLF2_ENST00000539187.1_Missense_Mutation_p.R213Q|MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000542154.1_Missense_Mutation_p.R213Q			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	213					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R213Q(1)		kidney(2)|large_intestine(3)|lung(4)	9						GGACTCAAGCCGCCGAAACTC	0.682																																					p.R213Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G638A	12						.						16.0	18.0	17.0					12																	6858070		2186	4286	6472	6728331	SO:0001583	missense	8079	exon8			U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.638G>A	12.37:g.6858070C>T	ENSP00000203630:p.Arg213Gln		6728331	NM_005439		Missense_Mutation	SNP	ENST00000203630.5	37	CCDS8559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.98|17.98	3.520830|3.520830	0.64747|0.64747	.|.	.|.	ENSG00000089693|ENSG00000089693	ENST00000537126|ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.|.	.|.	.|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.054096	.|0.64402	.|D	.|0.000001	T|T	0.33876|0.33876	0.0878|0.0878	L|L	0.27053|0.27053	0.805|0.805	0.37331|0.37331	D|D	0.909998|0.909998	.|P	.|0.52692	.|0.955	.|B	.|0.38562	.|0.276	T|T	0.31024|0.31024	-0.9958|-0.9958	6|9	0.87932|0.23891	D|T	0|0.37	.|.	16.6666|16.6666	0.85254|0.85254	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|213	.|Q15773	.|MLF2_HUMAN	S|Q	224|213	.|.	ENSP00000439789:G224S|ENSP00000203630:R213Q	G|R	-|-	1|2	0|0	MLF2|MLF2	6728331|6728331	0.606000|0.606000	0.26949|0.26949	0.906000|0.906000	0.35671|0.35671	0.023000|0.023000	0.10783|0.10783	6.266000|6.266000	0.72540|0.72540	2.365000|2.365000	0.80145|0.80145	0.491000|0.491000	0.48974|0.48974	GGC|CGG		0.682	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2		
C1S	716	broad.mit.edu	37	12	7174393	7174393	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:7174393G>T	ENST00000406697.1	+	12	1666	c.1038G>T	c.(1036-1038)aaG>aaT	p.K346N	C1S_ENST00000360817.5_Missense_Mutation_p.K346N|C1S_ENST00000328916.3_Missense_Mutation_p.K346N|C1S_ENST00000402681.3_Missense_Mutation_p.K179N			P09871	C1S_HUMAN	complement component 1, s subcomponent	346	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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.K346N(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)	GCAATGGAAAGTGGAGTAATT	0.373																																					p.K346N	GBM(156;750 1943 12971 24779 31015)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1038T	12						.						144.0	132.0	136.0					12																	7174393		2203	4300	6503	7044654	SO:0001583	missense	716	exon9				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.1038G>T	12.37:g.7174393G>T	ENSP00000385035:p.Lys346Asn		7044654	NM_201442	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704619	0.68615	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.74	5.74	0.90152	Complement control module (2);Sushi/SCR/CCP (3);	0.334156	0.21912	N	0.067300	T	0.56455	0.1986	L	0.41906	1.305	0.34113	D	0.663167	B	0.22346	0.068	B	0.28553	0.091	T	0.61955	-0.6956	10	0.33940	T	0.23	.	15.4279	0.75069	0.0:0.0:1.0:0.0	.	346	P09871	C1S_HUMAN	N	346;346;346;334;179	ENSP00000385035:K346N;ENSP00000328173:K346N;ENSP00000354057:K346N;ENSP00000384171:K179N	ENSP00000328173:K346N	K	+	3	2	C1S	7044654	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.924000	0.56476	2.710000	0.92621	0.561000	0.74099	AAG		0.373	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	
CD163L1	283316	broad.mit.edu	37	12	7527308	7527308	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:7527308C>A	ENST00000313599.3	-	13	3196	c.3139G>T	c.(3139-3141)Ggg>Tgg	p.G1047W	CD163L1_ENST00000416109.2_Missense_Mutation_p.G1057W|CD163L1_ENST00000396630.1_Missense_Mutation_p.G1047W|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1047	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.G1047W(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCTACTCTCCCGGCACAGCGG	0.552											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G1047W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3139T	12						.						45.0	41.0	43.0					12																	7527308		2203	4300	6503	7418575	SO:0001583	missense	283316	exon13			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3139G>T	12.37:g.7527308C>A	ENSP00000315945:p.Gly1047Trp	642	7418575	NM_174941	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967138	0.74131	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	D;D;D	0.84298	-1.83;-1.83;-1.83	2.52	2.52	0.30459	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.000000	0.50627	U	0.000111	D	0.95755	0.8619	H	0.99919	4.95	0.41522	D	0.988401	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95772	0.8809	10	0.87932	D	0	.	11.1201	0.48284	0.0:1.0:0.0:0.0	.	1057;1047	E7EVK4;Q9NR16	.;C163B_HUMAN	W	1047;1057;1047	ENSP00000315945:G1047W;ENSP00000393474:G1057W;ENSP00000379871:G1047W	ENSP00000315945:G1047W	G	-	1	0	CD163L1	7418575	0.999000	0.42202	0.680000	0.29994	0.386000	0.30323	4.521000	0.60532	1.694000	0.51137	0.462000	0.41574	GGG		0.552	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
SLC2A14	144195	broad.mit.edu	37	12	7970444	7970444	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:7970444G>A	ENST00000543909.1	-	15	2086	c.1327C>T	c.(1327-1329)Ctc>Ttc	p.L443F	SLC2A14_ENST00000431042.2_Missense_Mutation_p.L420F|SLC2A14_ENST00000542546.1_Missense_Mutation_p.L334F|SLC2A14_ENST00000535295.1_Missense_Mutation_p.L334F|SLC2A14_ENST00000539924.1_Missense_Mutation_p.L458F|SLC2A14_ENST00000396589.2_Missense_Mutation_p.L443F|SLC2A14_ENST00000542505.1_Missense_Mutation_p.L84F|SLC2A14_ENST00000340749.5_Missense_Mutation_p.L420F			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	443					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.L443F(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GAGGGGAAGAGCAATCCGACT	0.473																																					p.L443F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1327T	12						.						50.0	51.0	51.0					12																	7970444		2203	4300	6503	7861711	SO:0001583	missense	144195	exon11			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1327C>T	12.37:g.7970444G>A	ENSP00000440480:p.Leu443Phe		7861711	NM_153449	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	G	1.840	-0.467623	0.04476	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	3.31	1.29	0.21616	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.589505	0.18568	N	0.137403	T	0.56062	0.1960	L	0.33792	1.035	0.34203	D	0.673365	B;B;B;B	0.17038	0.02;0.011;0.009;0.02	B;B;B;B	0.21151	0.033;0.022;0.013;0.033	T	0.49808	-0.8900	10	0.11182	T	0.66	.	6.31	0.21159	0.3762:0.0:0.6238:0.0	.	458;334;420;443	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	F	420;443;420;84;443;334;334;458	ENSP00000340450:L420F;ENSP00000440480:L443F;ENSP00000407287:L420F;ENSP00000438484:L84F;ENSP00000379834:L443F;ENSP00000440492:L334F;ENSP00000443903:L334F;ENSP00000445929:L458F	ENSP00000340450:L420F	L	-	1	0	SLC2A14	7861711	0.996000	0.38824	0.944000	0.38274	0.761000	0.43186	0.603000	0.24149	0.457000	0.26962	0.195000	0.17529	CTC		0.473	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449	
FOXJ2	55810	broad.mit.edu	37	12	8200750	8200750	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:8200750G>A	ENST00000162391.3	+	7	2235	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	FOXJ2_ENST00000428177.2_Missense_Mutation_p.A364T	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	364					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.A364T(1)		autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CCCTGTAATGGCCATGCATCC	0.652																																					p.A364T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1090A	12						.						57.0	49.0	51.0					12																	8200750		2203	4300	6503	8092017	SO:0001583	missense	55810	exon7			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1090G>A	12.37:g.8200750G>A	ENSP00000162391:p.Ala364Thr		8092017	NM_018416	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624475	0.28889	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.94966	-3.4;-3.57	5.61	4.72	0.59763	.	0.536026	0.17910	N	0.157863	D	0.88603	0.6481	L	0.44542	1.39	0.32741	N	0.50764	P;B	0.35155	0.487;0.0	B;B	0.31101	0.124;0.002	D	0.85083	0.0947	10	0.02654	T	1	.	10.6197	0.45472	0.0887:0.0:0.9113:0.0	.	364;364	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	T	364	ENSP00000162391:A364T;ENSP00000403411:A364T	ENSP00000162391:A364T	A	+	1	0	FOXJ2	8092017	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.381000	0.44336	1.376000	0.46267	0.491000	0.48974	GCC		0.652	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416	
C3AR1	719	broad.mit.edu	37	12	8211804	8211804	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:8211804G>A	ENST00000307637.4	-	2	1181	c.978C>T	c.(976-978)gaC>gaT	p.D326D		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	326					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.D326D(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GCACTTGATCGTCATCTGTGA	0.458																																					p.D326D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C978T	12						.						164.0	157.0	159.0					12																	8211804		2203	4300	6503	8103071	SO:0001819	synonymous_variant	719	exon2			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.978C>T	12.37:g.8211804G>A			8103071	NM_004054	O43771|Q92868	Silent	SNP	ENST00000307637.4	37	CCDS8588.1																																																																																				0.458	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1		
TAS2R50	259296	broad.mit.edu	37	12	11139432	11139432	+	Frame_Shift_Del	DEL	A	A	-	rs79147066	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:11139432delA	ENST00000506868.1	-	1	79	c.28delT	c.(28-30)tcafs	p.S10fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	10					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.S10fs*3(2)|p.S10fs*25(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						ATTAGAATTGAAAAAAAAATG	0.318													AAAAAAAAA|AAAAAAAAA|AAAAAAAA|deletion	5	0.000998403	0.0008	0.0	5008	,	,		18196	0.003		0.001	False		,,,				2504	0.0				p.S10fs												.	.	3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)	c.28delT	12						.			22,55,4089		0,0,22,2,51,2008	28.0	34.0	32.0			0.1	0.0	12	dbSNP_131	32	47,89,8042		0,0,47,1,87,3954	no	codingComplex	TAS2R50	NM_176890.2		0,0,69,3,138,5962	A1A1,A1A2,A1R,A2A2,A2R,RR		1.663,1.8483,1.7255			11139432	69,144,12131	2175	4275	6450	11030699	SO:0001589	frameshift_variant	259296	exon1			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.28delT	12.37:g.11139432delA	ENSP00000424040:p.Ser10fs		11030699	NM_176890	P59545|Q2M255|Q645Y0	Frame_Shift_Del	DEL	ENST00000506868.1	37	CCDS8638.1																																																																																				0.318	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890	
STRAP	11171	broad.mit.edu	37	12	16043574	16043574	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:16043574G>A	ENST00000419869.2	+	4	687	c.374G>A	c.(373-375)cGc>cAc	p.R125H	STRAP_ENST00000025399.6_Missense_Mutation_p.R138H|STRAP_ENST00000538352.1_Missense_Mutation_p.R31H	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	125					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)	p.R125H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				AAACTGTTACGCATATATGAC	0.274																																					p.R125H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G374A	12						.						75.0	78.0	77.0					12																	16043574		2203	4300	6503	15934841	SO:0001583	missense	11171	exon4			AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.374G>A	12.37:g.16043574G>A	ENSP00000392270:p.Arg125His		15934841	NM_007178	B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	ENST00000419869.2	37	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400396	0.62177	.	.	ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869	T;T;T	0.67523	-0.27;-0.27;-0.27	4.81	3.92	0.45320	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.098289	0.64402	D	0.000001	T	0.65606	0.2707	M	0.76727	2.345	0.58432	D	0.999999	P;P	0.45569	0.861;0.856	B;B	0.39562	0.303;0.303	T	0.72141	-0.4380	10	0.87932	D	0	-7.6984	13.0515	0.58958	0.0777:0.0:0.9223:0.0	.	138;125	B4DNJ6;Q9Y3F4	.;STRAP_HUMAN	H	31;138;125	ENSP00000439761:R31H;ENSP00000025399:R138H;ENSP00000392270:R125H	ENSP00000025399:R138H	R	+	2	0	STRAP	15934841	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.585000	0.90802	1.251000	0.43983	0.585000	0.79938	CGC		0.274	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178	
ABCC9	10060	broad.mit.edu	37	12	21995261	21995261	+	Missense_Mutation	SNP	G	G	A	rs387907208		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:21995261G>A	ENST00000261201.4	-	27	3459	c.3460C>T	c.(3460-3462)Cgg>Tgg	p.R1154W	ABCC9_ENST00000345162.2_Missense_Mutation_p.R1118W|ABCC9_ENST00000261200.4_Missense_Mutation_p.R1154W|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1154	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		R -> Q (in HTOCD; mutant channels show reduced ATP sensitivity). {ECO:0000269|PubMed:22608503, ECO:0000269|PubMed:22610116}.|R -> W (in HTOCD). {ECO:0000269|PubMed:22608503, ECO:0000269|PubMed:22610116}.		defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.R1154W(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GAGGCAACCCGAAAGTATTTC	0.438																																					p.R1154W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3460T	12						.						81.0	75.0	77.0					12																	21995261		2203	4300	6503	21886528	SO:0001583	missense	10060	exon27			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3460C>T	12.37:g.21995261G>A	ENSP00000261201:p.Arg1154Trp		21886528	NM_020297	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283716	0.59867	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.0	4.1	0.47936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95544	0.8552	H	0.94423	3.535	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.968	D	0.96178	0.9128	10	0.72032	D	0.01	-9.0031	12.8165	0.57669	0.0:0.0:0.5866:0.4134	.	1154;1154	O60706;O60706-2	ABCC9_HUMAN;.	W	1154;781;1154;1118	ENSP00000261200:R1154W;ENSP00000440521:R781W;ENSP00000261201:R1154W;ENSP00000261202:R1118W	ENSP00000261200:R1154W	R	-	1	2	ABCC9	21886528	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.824000	0.48088	1.312000	0.45043	-0.309000	0.09137	CGG		0.438	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
KRAS	3845	broad.mit.edu	37	12	25378562	25378562	+	Missense_Mutation	SNP	C	C	T	rs121913527		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:25378562C>T	ENST00000256078.4	-	4	499	c.436G>A	c.(436-438)Gca>Aca	p.A146T	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.A146T	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	146			A -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.A146T(75)|p.A146P(7)	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)			CTTGTCTTTGCTGATGTTTCA	0.323	A146T(AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A146T(LS1034_LARGE_INTESTINE)|A146T(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.A146T	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,large_intestine,NS,Substitution - Missense,0	.	82	Substitution - Missense(82)	large_intestine(69)|haematopoietic_and_lymphoid_tissue(11)|lung(2)	c.G436A	12						.						207.0	188.0	195.0					12																	25378562		2203	4300	6503	25269829	SO:0001583	missense	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.436G>A	12.37:g.25378562C>T	ENSP00000256078:p.Ala146Thr		25269829	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234460	0.95207	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88741	-2.42;-2.42	5.52	5.52	0.82312	Small GTP-binding protein domain (1);	0.045975	0.85682	D	0.000000	D	0.96639	0.8903	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.76071	0.987;0.876	D	0.97524	1.0075	10	0.72032	D	0.01	.	18.7849	0.91951	0.0:1.0:0.0:0.0	.	146;146	P01116-2;P01116	.;RASK_HUMAN	T	146	ENSP00000308495:A146T;ENSP00000256078:A146T	ENSP00000256078:A146T	A	-	1	0	KRAS	25269829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.757000	0.94681	0.585000	0.79938	GCA		0.323	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
DDX11	1663	broad.mit.edu	37	12	31243006	31243006	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:31243006G>A	ENST00000407793.2	+	9	1318	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.R356H|DDX11_ENST00000545668.1_Missense_Mutation_p.R356H|DDX11_ENST00000542838.1_Missense_Mutation_p.R356H|DDX11_ENST00000228264.6_Missense_Mutation_p.R330H	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	356	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.R356H(1)		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)					TACGGGAGCCGCCTTGCCATC	0.647										Multiple Myeloma(12;0.14)																											p.R356H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1067A	12						.						2.0	3.0	3.0					12																	31243006		1496	3128	4624	31134273	SO:0001583	missense	1663	exon9			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.1067G>A	12.37:g.31243006G>A	ENSP00000384703:p.Arg356His		31134273	NM_004399	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270949	0.80469	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	3.98	3.98	0.46160	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.056546	0.64402	D	0.000001	D	0.90868	0.7131	H	0.95712	3.71	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999	D	0.93340	0.6709	10	0.87932	D	0	.	13.634	0.62213	0.0:0.0:1.0:0.0	.	81;330;356;356;356	Q93000;Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;.;DDX11_HUMAN;.;.	H	356;356;81;330;356;356	ENSP00000443426:R356H;ENSP00000384703:R356H;ENSP00000228264:R330H;ENSP00000440402:R356H;ENSP00000309965:R356H	ENSP00000228264:R330H	R	+	2	0	DDX11	31134273	1.000000	0.71417	0.833000	0.33012	0.717000	0.41224	8.776000	0.91776	2.038000	0.60285	0.505000	0.49811	CGC		0.647	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	
PKP2	5318	broad.mit.edu	37	12	33003756	33003756	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:33003756C>T	ENST00000070846.6	-	5	1346	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	PKP2_ENST00000340811.4_Missense_Mutation_p.R441Q	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	441					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.R441Q(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGGAGCAGCCGAGGTACCCC	0.448																																					p.R441Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1322A	12						.						124.0	123.0	123.0					12																	33003756		2203	4300	6503	32895023	SO:0001583	missense	5318	exon5			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1322G>A	12.37:g.33003756C>T	ENSP00000070846:p.Arg441Gln		32895023	NM_004572	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493494	0.26774	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.69175	-0.38;0.79	4.7	3.81	0.43845	Armadillo-like helical (1);Armadillo-type fold (1);	0.591033	0.16475	N	0.212795	T	0.46983	0.1421	L	0.38175	1.15	0.30039	N	0.812779	B;B;P	0.36162	0.338;0.39;0.54	B;B;B	0.20767	0.018;0.031;0.013	T	0.42241	-0.9463	10	0.21540	T	0.41	-21.8214	8.369	0.32404	0.191:0.7242:0.0:0.0848	.	441;441;441	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	Q	441	ENSP00000342800:R441Q;ENSP00000070846:R441Q	ENSP00000070846:R441Q	R	-	2	0	PKP2	32895023	0.555000	0.26530	0.999000	0.59377	0.897000	0.52465	1.270000	0.33086	1.109000	0.41680	0.462000	0.41574	CGG		0.448	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572	
LRRK2	120892	broad.mit.edu	37	12	40707885	40707885	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:40707885C>T	ENST00000298910.7	+	32	4706	c.4648C>T	c.(4648-4650)Cgg>Tgg	p.R1550W	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1550			R -> Q (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.R1550W(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CGTAATTGACCGGAAACGATT	0.378																																					p.R1550W												LRRK2,ovary,NS,Substitution - Missense,-1	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4648T	12						.						82.0	77.0	78.0					12																	40707885		2203	4299	6502	38994152	SO:0001583	missense	120892	exon32			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4648C>T	12.37:g.40707885C>T	ENSP00000298910:p.Arg1550Trp		38994152	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423663	0.83559	.	.	ENSG00000188906	ENST00000298910	T	0.71222	-0.55	5.83	3.86	0.44501	.	0.257637	0.39544	N	0.001339	T	0.57213	0.2038	N	0.12182	0.205	0.35881	D	0.828972	D;D	0.63046	0.983;0.992	B;P	0.46339	0.427;0.513	T	0.67925	-0.5544	10	0.40728	T	0.16	.	14.5714	0.68213	0.266:0.734:0.0:0.0	.	1550;1550	Q17RV3;Q5S007	.;LRRK2_HUMAN	W	1550	ENSP00000298910:R1550W	ENSP00000298910:R1550W	R	+	1	2	LRRK2	38994152	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.422000	0.52749	1.422000	0.47177	0.585000	0.79938	CGG		0.378	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
PCED1B	91523	broad.mit.edu	37	12	47629772	47629772	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:47629772G>A	ENST00000546455.1	+	4	1657	c.926G>A	c.(925-927)cGc>cAc	p.R309H	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.R309H			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	309	Pro-rich.						hydrolase activity (GO:0016787)	p.R309H(1)									ccaccccagcgcttgccgctg	0.652																																					p.R309H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G926A	12						.						51.0	55.0	53.0					12																	47629772		2203	4300	6503	45916039	SO:0001583	missense	91523	exon2			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.926G>A	12.37:g.47629772G>A	ENSP00000446688:p.Arg309His		45916039	NM_138371	Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.465077	0.26335	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000548348	T;T	0.31247	1.5;1.5	4.28	-4.27	0.03744	.	1.657320	0.04115	N	0.315272	T	0.12390	0.0301	N	0.08118	0	0.09310	N	1	B	0.33904	0.431	B	0.26202	0.067	T	0.11792	-1.0573	10	0.29301	T	0.29	.	5.4039	0.16310	0.1001:0.172:0.5577:0.1702	.	309	Q96HM7	F113B_HUMAN	H	309;309;189	ENSP00000446688:R309H;ENSP00000396040:R309H	ENSP00000396040:R309H	R	+	2	0	FAM113B	45916039	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.241000	0.02911	-0.866000	0.04068	-0.835000	0.03068	CGC		0.652	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371	
OR8S1	341568	broad.mit.edu	37	12	48921793	48921793	+	Silent	SNP	C	C	T	rs375054614		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:48921793C>T	ENST00000310194.1	+	2	987	c.987C>T	c.(985-987)ccC>ccT	p.P329P	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P329P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCAGGGAGCCCGGACACCCGG	0.677																																					p.P329P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C987T	12						.	C		0,4406		0,0,2203	22.0	25.0	24.0		987	-0.3	0.0	12		24	1,8599		0,1,4299	no	coding-synonymous	OR8S1	NM_001005203.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		329/360	48921793	1,13005	2203	4300	6503	47208060	SO:0001819	synonymous_variant	341568	exon2				CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.987C>T	12.37:g.48921793C>T			47208060	NM_001005203		Silent	SNP	ENST00000310194.1	37	CCDS31789.1																																																																																				0.677	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1		
FKBP11	51303	broad.mit.edu	37	12	49315858	49315858	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:49315858A>T	ENST00000550765.1	-	6	913	c.515T>A	c.(514-516)aTt>aAt	p.I172N	FKBP11_ENST00000444214.2_Missense_Mutation_p.I70N|CCDC65_ENST00000266984.5_Intron|RP11-302B13.5_ENST00000398092.4_Intron|AC073610.5_ENST00000537495.1_3'UTR	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	172					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.I172N(1)		kidney(1)|large_intestine(3)|lung(1)	5						GTGATACCCAATGAGGCCCAG	0.458																																					p.I172N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T515A	12						.						88.0	92.0	91.0					12																	49315858		2203	4300	6503	47602125	SO:0001583	missense	51303	exon6			AF238079	CCDS8773.1, CCDS44870.1, CCDS44871.1	12q13.12	2008-08-04	2002-08-29			ENSG00000134285			18624	protein-coding gene	gene with protein product		610571	"""FK506 binding protein 11 (19 kDa)"""			12036304, 16596453	Standard	NM_016594		Approved	FKBP19	uc001rsp.3	Q9NYL4		ENST00000550765.1:c.515T>A	12.37:g.49315858A>T	ENSP00000449751:p.Ile172Asn		47602125	NM_016594	B4DWB7	Missense_Mutation	SNP	ENST00000550765.1	37	CCDS8773.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.810156	0.90707	.	.	ENSG00000134285	ENST00000444214;ENST00000550765	T;T	0.67523	-0.27;0.27	5.85	5.85	0.93711	.	0.065662	0.64402	D	0.000007	T	0.68421	0.2999	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.74343	-0.3696	10	0.87932	D	0	-5.8454	15.5289	0.75936	1.0:0.0:0.0:0.0	.	172	Q9NYL4	FKB11_HUMAN	N	70;172	ENSP00000412403:I70N;ENSP00000449751:I172N	ENSP00000412403:I70N	I	-	2	0	FKBP11	47602125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.151000	0.89636	2.371000	0.80710	0.533000	0.62120	ATT		0.458	FKBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408927.1	NM_016594	
KMT2D	8085	broad.mit.edu	37	12	49434492	49434492	+	Frame_Shift_Del	DEL	G	G	-	rs572022239	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:49434492delG	ENST00000301067.7	-	31	7060	c.7061delC	c.(7060-7062)cctfs	p.P2354fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2354	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P2084fs*30(1)									AGCCTGGGCAGGGGGTGGCTC	0.622																																					p.P2354fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.7061delC	12						.						25.0	31.0	29.0					12																	49434492		1901	4079	5980	47720759	SO:0001589	frameshift_variant	8085	exon31			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.7061delC	12.37:g.49434492delG	ENSP00000301067:p.Pro2354fs		47720759	NM_003482	O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	CCDS44873.1																																																																																				0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
PRPH	5630	broad.mit.edu	37	12	49690017	49690017	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:49690017G>A	ENST00000257860.4	+	2	2101	c.602G>A	c.(601-603)cGc>cAc	p.R201H	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R201H(1)		kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GTGCTCTTCCGCAAGGTGAGT	0.672																																					p.R201H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G602A	12						.						36.0	38.0	37.0					12																	49690017		2203	4300	6503	47976284	SO:0001583	missense	5630	exon2				CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.602G>A	12.37:g.49690017G>A	ENSP00000257860:p.Arg201His		47976284	NM_006262	Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000257860.4	37	CCDS8783.1	.	.	.	.	.	.	.	.	.	.	G	37	6.337828	0.97485	.	.	ENSG00000135406	ENST00000257860;ENST00000451891	D	0.92397	-3.03	5.27	5.27	0.74061	Filament (1);	0.000000	0.39909	N	0.001234	D	0.96420	0.8832	M	0.92880	3.355	0.80722	D	1	D	0.59357	0.985	P	0.57371	0.819	D	0.97354	0.9965	10	0.87932	D	0	.	17.7005	0.88293	0.0:0.0:1.0:0.0	.	201	P41219	PERI_HUMAN	H	201;88	ENSP00000257860:R201H	ENSP00000257860:R201H	R	+	2	0	PRPH	47976284	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.488000	0.73637	2.474000	0.83562	0.650000	0.86243	CGC		0.672	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262	
PRPF40B	25766	broad.mit.edu	37	12	50028964	50028964	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:50028964C>T	ENST00000380281.1	+	12	1082	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	PRPF40B_ENST00000261897.1_Missense_Mutation_p.R334W|FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R362W			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	340	FF 2.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.R340R(1)|p.R340W(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGAGGAGGCCCGGCTAAGGGC	0.597																																					p.R340W												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C1018T	12						.						50.0	49.0	49.0					12																	50028964		2203	4300	6503	48315231	SO:0001583	missense	25766	exon12			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1018C>T	12.37:g.50028964C>T	ENSP00000369634:p.Arg340Trp		48315231	NM_001031698	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37		.	.	.	.	.	.	.	.	.	.	C	19.90	3.912815	0.72983	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.30448	1.53;1.55	5.13	5.13	0.70059	.	0.000000	0.56097	D	0.000033	T	0.58264	0.2110	M	0.84683	2.71	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.61004	-0.7150	9	.	.	.	-22.3182	12.9	0.58121	0.1628:0.8372:0.0:0.0	.	340;334;340	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	W	334;340	ENSP00000261897:R334W;ENSP00000369634:R340W	.	R	+	1	2	PRPF40B	48315231	0.978000	0.34361	1.000000	0.80357	0.975000	0.68041	1.448000	0.35112	2.843000	0.97960	0.655000	0.94253	CGG		0.597	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272	
FMNL3	91010	broad.mit.edu	37	12	50044574	50044574	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:50044574C>T	ENST00000293590.5	-	17	2118	c.1885G>A	c.(1885-1887)Gcg>Acg	p.A629T	FMNL3_ENST00000550488.1_Missense_Mutation_p.A629T|FMNL3_ENST00000335154.5_Missense_Mutation_p.A629T|FMNL3_ENST00000352151.5_Missense_Mutation_p.A578T			Q8IVF7	FMNL3_HUMAN	formin-like 3	629	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.A629T(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GCTTTTTGCGCTGTCTTGTTT	0.527																																					p.A629T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1885A	12						.						129.0	121.0	124.0					12																	50044574		2003	4166	6169	48330841	SO:0001583	missense	91010	exon17			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1885G>A	12.37:g.50044574C>T	ENSP00000293590:p.Ala629Thr		48330841	NM_175736	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37		.	.	.	.	.	.	.	.	.	.	C	12.73	2.026335	0.35701	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.54	4.54	0.55810	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.113641	0.64402	D	0.000012	T	0.41351	0.1155	N	0.12182	0.205	0.38228	D	0.940945	B;B;B	0.27594	0.182;0.073;0.037	B;B;B	0.31245	0.126;0.059;0.042	T	0.35151	-0.9800	10	0.13108	T	0.6	.	11.0342	0.47791	0.3403:0.6597:0.0:0.0	.	578;629;629	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	T	629;629;578;629	ENSP00000335655:A629T;ENSP00000447479:A629T;ENSP00000344311:A578T;ENSP00000293590:A629T	ENSP00000293590:A629T	A	-	1	0	FMNL3	48330841	0.000000	0.05858	1.000000	0.80357	0.961000	0.63080	0.009000	0.13219	2.776000	0.95493	0.650000	0.86243	GCG		0.527	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736	
KRT74	121391	broad.mit.edu	37	12	52966448	52966448	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:52966448G>A	ENST00000305620.2	-	2	522	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	KRT74_ENST00000549343.1_Missense_Mutation_p.R159C	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	159	Coil 1A.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)	p.R159C(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TCTAGGAAGCGTACCTGGAAC	0.532																																					p.R159C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C475T	12						.						80.0	71.0	74.0					12																	52966448		2203	4300	6503	51252715	SO:0001583	missense	121391	exon2			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.475C>T	12.37:g.52966448G>A	ENSP00000307240:p.Arg159Cys		51252715	NM_175053	B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266065	0.23136	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.92595	-3.07;-3.07	4.71	-0.404	0.12396	Filament (1);	0.321298	0.17789	N	0.161958	D	0.94192	0.8136	H	0.98754	4.32	0.53688	D	0.999971	P	0.36633	0.562	B	0.37888	0.26	D	0.89621	0.3848	10	0.87932	D	0	.	6.0537	0.19799	0.1922:0.0:0.4866:0.3212	.	159	Q7RTS7	K2C74_HUMAN	C	159	ENSP00000447447:R159C;ENSP00000307240:R159C	ENSP00000307240:R159C	R	-	1	0	KRT74	51252715	0.939000	0.31865	0.922000	0.36590	0.189000	0.23516	1.533000	0.36040	-0.450000	0.07107	-0.824000	0.03097	CGC		0.532	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053	
CBX5	23468	broad.mit.edu	37	12	54651350	54651350	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:54651350G>A	ENST00000439541.2	-	2	210	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	RN7SL390P_ENST00000470634.2_RNA|CBX5_ENST00000209875.4_Missense_Mutation_p.R29C|CBX5_ENST00000550411.1_Missense_Mutation_p.R29C	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	29	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)	p.R29C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TTAACCACGCGCCTGTCTAGC	0.483																																					p.R29C	Colon(153;588 2459 18334 48613)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C85T	12						.						177.0	153.0	161.0					12																	54651350		2203	4300	6503	52937617	SO:0001583	missense	23468	exon2			U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.85C>T	12.37:g.54651350G>A	ENSP00000401009:p.Arg29Cys		52937617	NM_001127322	B2R8T9	Missense_Mutation	SNP	ENST00000439541.2	37	CCDS8875.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051027	0.75960	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411;ENST00000552562	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.65	5.65	0.86999	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.098342	0.64402	D	0.000003	D	0.89206	0.6649	M	0.90542	3.125	0.80722	D	1	D;P	0.76494	0.999;0.884	D;P	0.76575	0.988;0.662	D	0.90266	0.4304	10	0.87932	D	0	-4.8608	12.0477	0.53489	0.0:0.0:0.8284:0.1716	.	29;29	G3V1X9;P45973	.;CBX5_HUMAN	C	29	ENSP00000209875:R29C;ENSP00000401009:R29C;ENSP00000449207:R29C;ENSP00000450190:R29C	ENSP00000209875:R29C	R	-	1	0	CBX5	52937617	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	4.634000	0.61325	2.941000	0.99782	0.655000	0.94253	CGC		0.483	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117	
OR10P1	121130	broad.mit.edu	37	12	56031567	56031567	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:56031567G>A	ENST00000309675.2	+	1	924	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V298M(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GAACAAGGACGTGAGGAGGGC	0.582																																					p.V298M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G892A	12						.						54.0	47.0	49.0					12																	56031567		2203	4300	6503	54317834	SO:0001583	missense	121130	exon1			BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.892G>A	12.37:g.56031567G>A	ENSP00000308082:p.Val298Met		54317834	NM_206899	B9EGY4	Missense_Mutation	SNP	ENST00000309675.2	37	CCDS31828.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964947	0.34659	.	.	ENSG00000175398	ENST00000309675	T	0.39229	1.09	4.31	4.31	0.51392	.	0.000000	0.39834	N	0.001250	T	0.57388	0.2050	L	0.60012	1.86	0.33554	D	0.596497	D	0.89917	1.0	D	0.71184	0.972	T	0.67852	-0.5563	10	0.51188	T	0.08	.	12.4825	0.55852	0.0:0.0:1.0:0.0	.	298	Q8NGE3	O10P1_HUMAN	M	298	ENSP00000308082:V298M	ENSP00000308082:V298M	V	+	1	0	OR10P1	54317834	0.607000	0.26958	0.952000	0.39060	0.003000	0.03518	1.334000	0.33827	2.412000	0.81896	0.561000	0.74099	GTG		0.582	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1		
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517																																					p.V104M												ERBB3,ovary,NS,Substitution - Missense,0	.	9	Substitution - Missense(9)	large_intestine(5)|endometrium(2)|ovary(1)|NS(1)	c.G310A	12						.						186.0	159.0	168.0					12																	56478854		2203	4300	6503	54765121	SO:0001583	missense	2065	exon3			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.310G>A	12.37:g.56478854G>A	ENSP00000267101:p.Val104Met		54765121	NM_001005915	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103691	0.56291	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.82	4.93	0.64822	EGF receptor, L domain (1);	0.096412	0.43416	D	0.000573	D	0.87438	0.6177	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59221	0.698;0.854	D	0.88227	0.2901	10	0.59425	D	0.04	.	10.6531	0.45659	0.1547:0.0:0.8453:0.0	.	104;104	P21860;P21860-2	ERBB3_HUMAN;.	M	104;45;104;104;104;45;45	ENSP00000448636:V104M;ENSP00000449138:V45M;ENSP00000267101:V104M;ENSP00000415753:V104M;ENSP00000449713:V45M;ENSP00000408340:V45M	ENSP00000267101:V104M	V	+	1	0	ERBB3	54765121	1.000000	0.71417	0.892000	0.35008	0.052000	0.14988	4.300000	0.59079	1.450000	0.47717	0.655000	0.94253	GTG		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		
INHBE	83729	broad.mit.edu	37	12	57850588	57850588	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:57850588C>T	ENST00000266646.2	+	2	1226	c.1010C>T	c.(1009-1011)aCg>aTg	p.T337M	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	337					growth (GO:0040007)	extracellular region (GO:0005576)		p.T337M(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GTGGTCAAGACGGATGTGCCA	0.562											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T337M	GBM(191;1808 2166 15720 36624 50371)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1010T	12						.						99.0	84.0	89.0					12																	57850588		2203	4300	6503	56136855	SO:0001583	missense	83729	exon2				CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.1010C>T	12.37:g.57850588C>T	ENSP00000266646:p.Thr337Met	1026	56136855	NM_031479		Missense_Mutation	SNP	ENST00000266646.2	37	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225799	0.58668	.	.	ENSG00000139269	ENST00000266646	D	0.84223	-1.82	4.65	3.76	0.43208	Transforming growth factor-beta, C-terminal (3);	0.054984	0.64402	D	0.000001	D	0.90242	0.6949	M	0.69358	2.11	0.50313	D	0.999866	D	0.76494	0.999	D	0.79784	0.993	D	0.90403	0.4404	10	0.59425	D	0.04	-17.61	11.9677	0.53044	0.0:0.9138:0.0:0.0862	.	337	P58166	INHBE_HUMAN	M	337	ENSP00000266646:T337M	ENSP00000266646:T337M	T	+	2	0	INHBE	56136855	0.894000	0.30519	1.000000	0.80357	0.996000	0.88848	1.806000	0.38892	1.306000	0.44926	0.655000	0.94253	ACG		0.562	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479	
ARHGAP9	64333	broad.mit.edu	37	12	57869692	57869692	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:57869692T>G	ENST00000356411.2	-	10	1373	c.1235A>C	c.(1234-1236)gAg>gCg	p.E412A	ARHGAP9_ENST00000393797.2_Missense_Mutation_p.E483A|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.E412A|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.E412A|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.E228A|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.E491A			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	412	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.E412A(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CAGCAGGAACTCGTGGCCAGG	0.652																																					p.E228A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A683C	12						.						28.0	31.0	30.0					12																	57869692		2200	4297	6497	56155959	SO:0001583	missense	64333	exon8			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1235A>C	12.37:g.57869692T>G	ENSP00000348782:p.Glu412Ala		56155959	NM_001080156	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37		.	.	.	.	.	.	.	.	.	.	T	28.7	4.939706	0.92526	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	3.97	3.97	0.46021	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.140509	0.46442	D	0.000298	D	0.85353	0.5677	M	0.83774	2.66	0.54753	D	0.999984	D;D;D;D;P	0.89917	0.999;0.999;0.999;1.0;0.922	D;D;D;D;D	0.97110	0.996;0.996;0.992;1.0;0.91	D	0.87026	0.2132	10	0.87932	D	0	.	10.8084	0.46531	0.0:0.0:0.0:1.0	.	491;412;412;412;228	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	A	412;412;82;412;483;461;228;228	ENSP00000377380:E412A;ENSP00000348782:E412A;ENSP00000394307:E412A;ENSP00000377386:E483A;ENSP00000397950:E228A;ENSP00000449829:E228A	ENSP00000344852:E461A	E	-	2	0	ARHGAP9	56155959	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	4.030000	0.57260	1.815000	0.52974	0.459000	0.35465	GAG		0.652	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496	
ARHGEF25	115557	broad.mit.edu	37	12	58009799	58009799	+	Splice_Site	SNP	C	C	T	rs114895142	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:58009799C>T	ENST00000286494.4	+	13	1879	c.1419C>T	c.(1417-1419)aaC>aaT	p.N473N	AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Splice_Site_p.N512N|AC025165.8_ENST00000593846.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	473	Sufficient to bind activated GNAQ.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N473N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						ACTTCCTCAACGGTGAAGCTC	0.567													C|||	86	0.0171725	0.0598	0.0101	5008	,	,		20618	0.0		0.0	False		,,,				2504	0.0				p.N512N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1536T	12						.	C	,	194,4212		2,190,2011	124.0	123.0	123.0		1536,1419	-0.2	1.0	12	dbSNP_132	123	6,8594		0,6,4294	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	ARHGEF25	NM_001111270.1,NM_182947.2	,	2,196,6305	TT,TC,CC		0.0698,4.4031,1.5378	,	512/620,473/581	58009799	200,12806	2203	4300	6503	56296066	SO:0001630	splice_region_variant	115557	exon14				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1420+1C>T	12.37:g.58009799C>T			56296066	NM_001111270	A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Silent	SNP	ENST00000286494.4	37	CCDS8947.1																																																																																				0.567	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483	Silent
B4GALNT1	2583	broad.mit.edu	37	12	58022927	58022927	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:58022927G>A	ENST00000341156.4	-	7	1299	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	B4GALNT1_ENST00000449184.3_Intron|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R184W|B4GALNT1_ENST00000550943.1_5'Flank	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	239					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.R239W(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTGGAGAACCGGACTGGGAAG	0.532																																					p.R239W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C715T	12						.						59.0	55.0	56.0					12																	58022927		2203	4300	6503	56309194	SO:0001583	missense	2583	exon7			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.715C>T	12.37:g.58022927G>A	ENSP00000341562:p.Arg239Trp		56309194	NM_001478	B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	13.88	2.369290	0.42003	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.19394	2.15;2.18	5.34	4.45	0.53987	.	0.210000	0.41097	D	0.000952	T	0.29783	0.0744	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.62014	0.897;0.875	T	0.01596	-1.1316	10	0.72032	D	0.01	-3.0107	10.5813	0.45257	0.0903:0.0:0.9097:0.0	.	184;239	B4DE26;Q00973	.;B4GN1_HUMAN	W	239;184	ENSP00000341562:R239W;ENSP00000401601:R184W	ENSP00000341562:R239W	R	-	1	2	B4GALNT1	56309194	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	3.601000	0.54059	2.522000	0.85027	0.655000	0.94253	CGG		0.532	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478	
AGAP2	116986	broad.mit.edu	37	12	58121195	58121195	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:58121195C>T	ENST00000547588.1	-	17	3027	c.3028G>A	c.(3028-3030)Gtg>Atg	p.V1010M	RP11-571M6.8_ENST00000548410.2_RNA|AGAP2_ENST00000257897.3_Missense_Mutation_p.V654M|AGAP2-AS1_ENST00000542466.2_Silent_p.H140H	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	1010	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.V654M(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CTTTCCCACACGCGGTTGGCC	0.672																																					p.V654M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1960A	12						.						55.0	46.0	49.0					12																	58121195		2203	4300	6503	56407462	SO:0001583	missense	116986	exon16			AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.3028G>A	12.37:g.58121195C>T	ENSP00000449241:p.Val1010Met		56407462	NM_014770	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.52|15.52	2.857236|2.857236	0.51376|0.51376	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000328568|ENST00000257897;ENST00000547588	T|T;T	0.44881|0.46451	0.91|0.87;0.87	5.0|5.0	3.13|3.13	0.36017|0.36017	.|.	.|0.263595	.|0.35207	.|N	.|0.003365	T|T	0.58177|0.58177	0.2104|0.2104	M|M	0.80332|0.80332	2.49|2.49	0.42086|0.42086	D|D	0.99127|0.99127	.|P;D;D	.|0.71674	.|0.587;0.994;0.998	.|B;P;P	.|0.60173	.|0.339;0.704;0.87	T|T	0.63296|0.63296	-0.6669|-0.6669	7|10	0.59425|0.87932	D|D	0.04|0	.|.	8.8582|8.8582	0.35240|0.35240	0.0:0.7477:0.0:0.2523|0.0:0.7477:0.0:0.2523	.|.	.|654;1010;1010	.|Q99490-2;F8VVT9;Q99490	.|.;.;AGAP2_HUMAN	H|M	853|654;1010	ENSP00000328160:R853H|ENSP00000257897:V654M;ENSP00000449241:V1010M	ENSP00000328160:R853H|ENSP00000257897:V654M	R|V	-|-	2|1	0|0	AGAP2|AGAP2	56407462|56407462	0.913000|0.913000	0.31002|0.31002	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.408000|0.408000	0.21065|0.21065	1.235000|1.235000	0.43724|0.43724	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.672	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770	
CDK4	1019	broad.mit.edu	37	12	58143021	58143021	+	Missense_Mutation	SNP	G	G	A	rs587778188		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:58143021G>A	ENST00000257904.6	-	7	1128	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000540325.1_Missense_Mutation_p.R135C|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000312990.6_3'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R255C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TGCACTGGGCGGGGCCCTCTG	0.622			Mis			melanoma			Hereditary Melanoma																												p.R255C		yes	Dom		Familial malignant melanoma	12	12q14	1019	cyclin-dependent kinase 4		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C763T	12						.						59.0	66.0	64.0					12																	58143021		2203	4300	6503	56429288	SO:0001583	missense	1019	exon7	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.763C>T	12.37:g.58143021G>A	ENSP00000257904:p.Arg255Cys		56429288	NM_000075	B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369960	0.42003	.	.	ENSG00000135446	ENST00000257904;ENST00000540325;ENST00000546489;ENST00000547281	T;T;T;T	0.77358	0.9;0.9;0.9;-1.09	4.59	2.78	0.32641	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.110120	0.64402	D	0.000007	T	0.66470	0.2792	L	0.37850	1.14	0.80722	D	1	B	0.14012	0.009	B	0.14023	0.01	T	0.63786	-0.6558	10	0.72032	D	0.01	.	8.9131	0.35565	0.1797:0.0:0.8203:0.0	.	255	P11802	CDK4_HUMAN	C	255;135;181;181	ENSP00000257904:R255C;ENSP00000439076:R135C;ENSP00000447779:R181C;ENSP00000447274:R181C	ENSP00000257904:R255C	R	-	1	0	CDK4	56429288	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.561000	0.60809	0.877000	0.35895	0.655000	0.94253	CGC		0.622	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075	
MON2	23041	broad.mit.edu	37	12	62887758	62887758	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:62887758C>T	ENST00000393632.2	+	3	630	c.239C>T	c.(238-240)cCg>cTg	p.P80L	MON2_ENST00000546600.1_Missense_Mutation_p.P80L|MON2_ENST00000393629.2_Missense_Mutation_p.P80L|MON2_ENST00000280379.6_Missense_Mutation_p.P80L|MON2_ENST00000552738.1_Missense_Mutation_p.P80L|MON2_ENST00000552115.1_Missense_Mutation_p.P80L|MON2_ENST00000549378.1_Intron|MON2_ENST00000393630.3_Missense_Mutation_p.P80L	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	80					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.P80L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ACCAAGGAACCGAAGATCACT	0.368																																					p.P80L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C239T	12						.						95.0	83.0	87.0					12																	62887758		2203	4300	6503	61174025	SO:0001583	missense	23041	exon3				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.239C>T	12.37:g.62887758C>T	ENSP00000377252:p.Pro80Leu		61174025	NM_015026	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934088	0.52866	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.70986	-0.36;-0.53;-0.53;-0.36;-0.36;-0.53;1.3	5.66	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	N	0.17631	0.505	0.80722	D	1	B;B;B;B	0.15473	0.005;0.003;0.013;0.005	B;B;B;B	0.09377	0.001;0.004;0.002;0.003	T	0.49466	-0.8937	9	.	.	.	-9.7937	15.9559	0.79886	0.136:0.864:0.0:0.0	.	80;80;80;80	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	L	80;80;80;80;8;80;80;80	ENSP00000377252:P80L;ENSP00000377250:P80L;ENSP00000280379:P80L;ENSP00000447407:P80L;ENSP00000449215:P80L;ENSP00000377249:P80L;ENSP00000446635:P80L	.	P	+	2	0	MON2	61174025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.090000	0.71397	1.370000	0.46153	0.591000	0.81541	CCG		0.368	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	
GNS	2799	broad.mit.edu	37	12	65115435	65115435	+	Silent	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:65115435G>T	ENST00000258145.3	-	12	1529	c.1359C>A	c.(1357-1359)gcC>gcA	p.A453A	GNS_ENST00000543646.1_Silent_p.A485A|GNS_ENST00000418919.2_Silent_p.A397A|GNS_ENST00000542058.1_Silent_p.A433A	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	453					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)	p.A453A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TCCTCACACAGGCATAGGTAT	0.433																																					p.A453A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1359A	12						.						189.0	154.0	166.0					12																	65115435		2203	4300	6503	63401702	SO:0001819	synonymous_variant	2799	exon12				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1359C>A	12.37:g.65115435G>T			63401702	NM_002076	B4DYH8|Q53F05	Silent	SNP	ENST00000258145.3	37	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	G	9.171	1.021204	0.19433	.	.	ENSG00000135677	ENST00000540196	.	.	.	5.71	-6.83	0.01693	.	.	.	.	.	T	0.47192	0.1432	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50783	-0.8787	4	.	.	.	-22.3648	7.1927	0.25834	0.158:0.0903:0.5717:0.18	.	.	.	.	M	239	.	.	L	-	1	2	GNS	63401702	0.971000	0.33674	0.782000	0.31804	0.804000	0.45430	0.209000	0.17435	-1.116000	0.02969	-0.367000	0.07326	CTG		0.433	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2		
ZFC3H1	196441	broad.mit.edu	37	12	72008478	72008478	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:72008478T>C	ENST00000378743.3	-	30	5721	c.5363A>G	c.(5362-5364)tAt>tGt	p.Y1788C		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1788					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Y1788C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAAGACAAGATAACTGCCAAA	0.353																																					p.Y1788C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5363G	12						.						73.0	73.0	73.0					12																	72008478		1808	4064	5872	70294745	SO:0001583	missense	196441	exon30			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5363A>G	12.37:g.72008478T>C	ENSP00000368017:p.Tyr1788Cys		70294745	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201948	0.58234	.	.	ENSG00000133858	ENST00000378743	T	0.39787	1.06	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57985	-0.7716	10	0.87932	D	0	.	15.0819	0.72122	0.0:0.0:0.0:1.0	.	1788	O60293	ZC3H1_HUMAN	C	1788	ENSP00000368017:Y1788C	ENSP00000368017:Y1788C	Y	-	2	0	ZFC3H1	70294745	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.332000	0.72934	2.019000	0.59389	0.455000	0.32223	TAT		0.353	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
NAV3	89795	broad.mit.edu	37	12	78510558	78510558	+	Silent	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:78510558T>C	ENST00000397909.2	+	13	2816	c.2643T>C	c.(2641-2643)gaT>gaC	p.D881D	NAV3_ENST00000266692.7_Silent_p.D881D|NAV3_ENST00000536525.2_Silent_p.D881D|NAV3_ENST00000228327.6_Silent_p.D881D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	881						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.D881D(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						TTAGCTGGGATGACAGCAGTT	0.438										HNSCC(70;0.22)																											p.D881D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2643C	12						.						128.0	119.0	122.0					12																	78510558		2080	4242	6322	77034689	SO:0001819	synonymous_variant	89795	exon13			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.2643T>C	12.37:g.78510558T>C			77034689	NM_014903	Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37																																																																																					0.438	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
MYF5	4617	broad.mit.edu	37	12	81111120	81111120	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:81111120G>A	ENST00000228644.3	+	1	430	c.278G>A	c.(277-279)cGg>cAg	p.R93Q		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	93	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.R93Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATGCGCGAGCGGAGGCGCCTG	0.607																																					p.R93Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G278A	12						.						49.0	44.0	46.0					12																	81111120		2203	4300	6503	79635251	SO:0001583	missense	4617	exon1				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.278G>A	12.37:g.81111120G>A	ENSP00000228644:p.Arg93Gln		79635251	NM_005593	Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	36	5.701055	0.96812	.	.	ENSG00000111049	ENST00000228644	D	0.98958	-5.27	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97729	1.0201	10	0.87932	D	0	-6.2748	20.6208	0.99490	0.0:0.0:1.0:0.0	.	93	P13349	MYF5_HUMAN	Q	93	ENSP00000228644:R93Q	ENSP00000228644:R93Q	R	+	2	0	MYF5	79635251	1.000000	0.71417	0.991000	0.47740	0.971000	0.66376	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	CGG		0.607	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593	
NTN4	59277	broad.mit.edu	37	12	96059708	96059708	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:96059708T>C	ENST00000343702.4	-	9	2076	c.1628A>G	c.(1627-1629)gAg>gGg	p.E543G	NTN4_ENST00000538383.1_Missense_Mutation_p.E506G|NTN4_ENST00000553059.1_Missense_Mutation_p.E520G|NTN4_ENST00000344911.4_Missense_Mutation_p.E506G|PGAM1P5_ENST00000552554.1_RNA	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	543	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)		p.E543G(1)		NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CACATTGACCTCAACATGAGT	0.333																																					p.E543G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1628G	12						.						103.0	96.0	98.0					12																	96059708		2203	4300	6503	94583839	SO:0001583	missense	59277	exon9			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1628A>G	12.37:g.96059708T>C	ENSP00000340998:p.Glu543Gly		94583839	NM_021229	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.935209	0.73442	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.91	5.91	0.95273	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	M	0.70275	2.135	0.52501	D	0.999955	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.981	T	0.52223	-0.8604	10	0.56958	D	0.05	.	16.3453	0.83126	0.0:0.0:0.0:1.0	.	520;543	Q9HB63-2;Q9HB63	.;NET4_HUMAN	G	543;506;506;520	ENSP00000340998:E543G;ENSP00000339436:E506G;ENSP00000444432:E506G;ENSP00000447292:E520G	ENSP00000340998:E543G	E	-	2	0	NTN4	94583839	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.424000	0.66464	2.261000	0.74972	0.533000	0.62120	GAG		0.333	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229	
HAL	3034	broad.mit.edu	37	12	96371738	96371738	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:96371738G>A	ENST00000261208.3	-	18	2006	c.1638C>T	c.(1636-1638)atC>atT	p.I546I	HAL_ENST00000538703.1_Silent_p.I546I|HAL_ENST00000541929.1_Silent_p.I338I	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	546					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)	p.I546I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CCACATGCTCGATGACCCTGA	0.607																																					p.I546I	NSCLC(169;943 2815 23563 30031)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1638T	12						.						139.0	97.0	111.0					12																	96371738		2203	4300	6503	94895869	SO:0001819	synonymous_variant	3034	exon18				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1638C>T	12.37:g.96371738G>A			94895869	NM_002108	B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Silent	SNP	ENST00000261208.3	37	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	1.388	-0.581627	0.03854	.	.	ENSG00000084110	ENST00000548808	.	.	.	5.73	-3.69	0.04450	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.3251	6.7173	0.23310	0.4764:0.3824:0.1412:0.0	.	.	.	.	X	78	.	.	R	-	1	2	HAL	94895869	0.986000	0.35501	0.935000	0.37517	0.077000	0.17291	0.249000	0.18216	-0.508000	0.06540	-1.474000	0.01003	CGA		0.607	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1		
LHX5	64211	broad.mit.edu	37	12	113901145	113901145	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:113901145delG	ENST00000261731.3	-	5	1632	c.1059delC	c.(1057-1059)cccfs	p.P353fs		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	353					cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E354fs*26(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GGCCTGGCTCGGGGCTCGGTG	0.741																																					p.P353fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1059delC	12						.						8.0	11.0	10.0					12																	113901145		2020	3970	5990	112385528	SO:0001589	frameshift_variant	64211	exon5			AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"""Homeoboxes / LIM class"""	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.1059delC	12.37:g.113901145delG	ENSP00000261731:p.Pro353fs		112385528	NM_022363	Q32MA4	Frame_Shift_Del	DEL	ENST00000261731.3	37	CCDS9171.1																																																																																				0.741	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363	
PGAM5	192111	broad.mit.edu	37	12	133291539	133291539	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr12:133291539C>A	ENST00000498926.2	+	2	345	c.287C>A	c.(286-288)gCc>gAc	p.A96D	PXMP2_ENST00000545677.1_Silent_p.G135G|PGAM5_ENST00000543955.1_5'UTR|PGAM5_ENST00000454808.2_5'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.A96D	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	96					dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)	p.A96D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		AAAGCCAAGGCCACGCGGCAC	0.582																																					p.A96D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C287A	12						.						158.0	108.0	125.0					12																	133291539		2203	4300	6503	131801612	SO:0001583	missense	192111	exon2			BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.287C>A	12.37:g.133291539C>A	ENSP00000438465:p.Ala96Asp		131801612	NM_001170544	A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	ENST00000498926.2	37	CCDS53845.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922047	0.92319	.	.	ENSG00000247077	ENST00000317555;ENST00000498926	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.78886	0.4354	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74348	0.961;0.983	T	0.81938	-0.0704	9	0.62326	D	0.03	0.3053	17.5103	0.87758	0.0:1.0:0.0:0.0	.	96;96	Q96HS1;Q96HS1-2	PGAM5_HUMAN;.	D	96	.	ENSP00000321503:A96D	A	+	2	0	PGAM5	131801612	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.448000	0.80631	2.136000	0.66102	0.462000	0.41574	GCC		0.582	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397562.1	NM_138575	
GABRB3	2562	broad.mit.edu	37	15	26812790	26812790	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:26812790G>A	ENST00000311550.5	-	7	884	c.773C>T	c.(772-774)aCg>aTg	p.T258M	GABRB3_ENST00000400188.3_Missense_Mutation_p.T187M|GABRB3_ENST00000299267.4_Missense_Mutation_p.T258M|GABRB3_ENST00000545868.1_Missense_Mutation_p.T173M|GABRB3_ENST00000541819.2_Missense_Mutation_p.T314M	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	258					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.T258M(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)	CGACAGAATCGTTATCAGTAT	0.408																																					p.T258M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C773T	15						.						131.0	111.0	118.0					15																	26812790		2203	4300	6503	24363883	SO:0001583	missense	2562	exon7				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.773C>T	15.37:g.26812790G>A	ENSP00000308725:p.Thr258Met		24363883	NM_021912	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271652	0.59649	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93083	0.7798	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.993;0.998	D	0.93036	0.6453	10	0.87932	D	0	.	19.6125	0.95613	0.0:0.0:1.0:0.0	.	314;258;258	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	M	258;314;258;187;173	ENSP00000308725:T258M;ENSP00000442408:T314M;ENSP00000299267:T258M;ENSP00000383049:T187M;ENSP00000439169:T173M	ENSP00000299267:T258M	T	-	2	0	GABRB3	24363883	1.000000	0.71417	0.288000	0.24862	0.033000	0.12548	9.724000	0.98775	2.879000	0.98667	0.650000	0.86243	ACG		0.408	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
MTMR10	54893	broad.mit.edu	37	15	31233773	31233773	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:31233773C>T	ENST00000435680.1	-	16	2331	c.2234G>A	c.(2233-2235)gGg>gAg	p.G745E	FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Intron	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	745							phosphatase activity (GO:0016791)	p.G745E(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)		GCACAGATTCCCTACAGGAGA	0.478																																					p.G745E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2234A	15						.						36.0	32.0	34.0					15																	31233773		1901	4126	6027	29021065	SO:0001583	missense	54893	exon16			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.2234G>A	15.37:g.31233773C>T	ENSP00000402537:p.Gly745Glu		29021065	NM_017762	Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712119	0.89112	.	.	ENSG00000166912	ENST00000435680	D	0.94931	-3.56	5.48	5.48	0.80851	.	.	.	.	.	D	0.95433	0.8517	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95192	0.8309	9	0.42905	T	0.14	.	19.3713	0.94488	0.0:1.0:0.0:0.0	.	745	Q9NXD2	MTMRA_HUMAN	E	745	ENSP00000402537:G745E	ENSP00000402537:G745E	G	-	2	0	MTMR10	29021065	1.000000	0.71417	0.632000	0.29296	0.990000	0.78478	7.487000	0.81328	2.575000	0.86900	0.655000	0.94253	GGG		0.478	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762	
TRPM1	4308	broad.mit.edu	37	15	31330248	31330248	+	Splice_Site	SNP	G	G	A	rs377044822		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:31330248G>A	ENST00000256552.6	-	19	2585	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Splice_Site_p.T830M|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Splice_Site_p.T791M	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.T791M(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTCACTGACCGTATTTTCCTC	0.378																																					p.T791M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2372T	15						.	G	MET/THR	1,3731		0,1,1865	126.0	115.0	119.0		2372	-1.1	0.2	15		119	0,8214		0,0,4107	no	missense-near-splice	TRPM1	NM_002420.4	81	0,1,5972	AA,AG,GG		0.0,0.0268,0.0084	benign	791/1604	31330248	1,11945	1866	4107	5973	29117540	SO:0001630	splice_region_variant	4308	exon18			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2439+1C>T	15.37:g.31330248G>A			29117540	NM_002420		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	2.684	-0.274616	0.05679	2.68E-4	0.0	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.66815	-0.23;-0.23;-0.23	5.33	-1.09	0.09904	.	0.364959	0.32533	N	0.005973	T	0.30510	0.0767	N	0.01352	-0.895	0.19300	N	0.999979	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.002	T	0.31641	-0.9936	10	0.10377	T	0.69	-9.349	11.8919	0.52635	0.5428:0.0:0.4572:0.0	.	785;791	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	M	791;830;813;791	ENSP00000380897:T791M;ENSP00000437849:T830M;ENSP00000256552:T813M	ENSP00000256552:T813M	T	-	2	0	TRPM1	29117540	0.005000	0.15991	0.151000	0.22473	0.064000	0.16182	0.030000	0.13688	-0.118000	0.11851	-0.982000	0.02568	ACG		0.378	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	Missense_Mutation
RYR3	6263	broad.mit.edu	37	15	33936603	33936603	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:33936603C>T	ENST00000389232.4	+	28	3718	c.3648C>T	c.(3646-3648)tgC>tgT	p.C1216C	RYR3_ENST00000415757.3_Silent_p.C1216C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1216	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.C1216C(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)		ATACCATGTGCGGTCTCCAAG	0.522																																					p.C1216C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3648T	15						.						76.0	76.0	76.0					15																	33936603		1936	4144	6080	31723895	SO:0001819	synonymous_variant	6263	exon28				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.3648C>T	15.37:g.33936603C>T			31723895	NM_001036	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.522	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
PGBD4	161779	broad.mit.edu	37	15	34394752	34394752	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:34394752G>A	ENST00000397766.2	+	1	479	c.20G>A	c.(19-21)cGt>cAt	p.R7H	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	7								p.R7H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		cctagaaaacgtagcattcct	0.343																																					p.R7H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G20A	15						.						19.0	20.0	20.0					15																	34394752		2190	4284	6474	32182044	SO:0001583	missense	161779	exon1			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.20G>A	15.37:g.34394752G>A	ENSP00000380872:p.Arg7His		32182044	NM_152595	A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303653	0.23736	.	.	ENSG00000182405	ENST00000397766	T	0.20738	2.05	0.793	0.793	0.18632	.	414.909000	0.03327	U	0.192847	T	0.15739	0.0379	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	P	0.49799	0.622	T	0.18053	-1.0349	10	0.44086	T	0.13	.	4.869	0.13622	0.0:0.0:1.0:0.0	.	7	Q96DM1	PGBD4_HUMAN	H	7	ENSP00000380872:R7H	ENSP00000380872:R7H	R	+	2	0	PGBD4	32182044	0.127000	0.22367	0.228000	0.23943	0.264000	0.26372	0.563000	0.23547	0.726000	0.32339	0.305000	0.20034	CGT		0.343	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1		
BAHD1	22893	broad.mit.edu	37	15	40751340	40751340	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:40751340C>A	ENST00000416165.1	+	2	748	c.677C>A	c.(676-678)cCt>cAt	p.P226H	BAHD1_ENST00000561234.1_Missense_Mutation_p.P226H|BAHD1_ENST00000560846.1_Missense_Mutation_p.P226H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	226					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)	p.P226H(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CTGCGGCTGCCTCGTGCCCAT	0.627																																					p.P226H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C677A	15						.						27.0	32.0	30.0					15																	40751340		2203	4300	6503	38538632	SO:0001583	missense	22893	exon2			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.677C>A	15.37:g.40751340C>A	ENSP00000396976:p.Pro226His		38538632	NM_014952	Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702712	0.30232	.	.	ENSG00000140320	ENST00000416165	T	0.18502	2.21	5.0	5.0	0.66597	.	0.404525	0.24585	N	0.037275	T	0.12050	0.0293	N	0.08118	0	0.24198	N	0.995529	P;B;P	0.36315	0.547;0.412;0.547	B;B;B	0.41036	0.346;0.188;0.346	T	0.20405	-1.0276	10	0.56958	D	0.05	-5.5308	13.0663	0.59036	0.0:0.712:0.288:0.0	.	226;226;226	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	226	ENSP00000396976:P226H	ENSP00000396976:P226H	P	+	2	0	BAHD1	38538632	0.996000	0.38824	0.992000	0.48379	0.498000	0.33706	2.180000	0.42537	2.750000	0.94351	0.655000	0.94253	CCT		0.627	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952	
DLL4	54567	broad.mit.edu	37	15	41229055	41229055	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:41229055C>T	ENST00000249749.5	+	9	2146	c.1870C>T	c.(1870-1872)Cgg>Tgg	p.R624W		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	624					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.R624W(1)		breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCCCTGGGGCGGGGGACCAT	0.587																																					p.R624W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1870T	15						.						26.0	29.0	28.0					15																	41229055		1882	4092	5974	39016347	SO:0001583	missense	54567	exon9			AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1870C>T	15.37:g.41229055C>T	ENSP00000249749:p.Arg624Trp		39016347	NM_019074	Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827998	0.50845	.	.	ENSG00000128917	ENST00000249749	D	0.88201	-2.35	5.53	3.63	0.41609	.	0.311695	0.36444	N	0.002598	T	0.81983	0.4938	L	0.36672	1.1	0.33679	D	0.611883	B	0.06786	0.001	B	0.06405	0.002	T	0.80603	-0.1309	10	0.72032	D	0.01	.	7.5302	0.27679	0.4453:0.4761:0.0:0.0785	.	624	Q9NR61	DLL4_HUMAN	W	624	ENSP00000249749:R624W	ENSP00000249749:R624W	R	+	1	2	DLL4	39016347	0.173000	0.23056	0.997000	0.53966	0.986000	0.74619	0.242000	0.18087	0.861000	0.35504	0.650000	0.86243	CGG		0.587	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1		
SPTBN5	51332	broad.mit.edu	37	15	42147078	42147078	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:42147078G>A	ENST00000320955.6	-	56	9747	c.9520C>T	c.(9520-9522)Cgg>Tgg	p.R3174W	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3174					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.R3174W(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)		GGTGCACCCCGCTCCAGGGTG	0.592																																					p.R3139W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9415T	15						.						59.0	61.0	60.0					15																	42147078		1917	4131	6048	39934370	SO:0001583	missense	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.9520C>T	15.37:g.42147078G>A	ENSP00000317790:p.Arg3174Trp		39934370	NM_016642		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	12.73	2.024926	0.35701	.	.	ENSG00000137877	ENST00000320955	T	0.50548	0.74	5.2	0.63	0.17693	.	0.667620	0.13784	N	0.363007	T	0.59404	0.2191	M	0.65975	2.015	0.09310	N	1	D	0.89917	1.0	D	0.69654	0.965	T	0.48758	-0.9007	10	0.72032	D	0.01	.	5.9484	0.19232	0.0714:0.0923:0.48:0.3563	.	3174	Q9NRC6	SPTN5_HUMAN	W	3174	ENSP00000317790:R3174W	ENSP00000317790:R3174W	R	-	1	2	SPTBN5	39934370	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	0.789000	0.26886	-0.180000	0.10637	-0.150000	0.13652	CGG		0.592	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
CAPN3	825	broad.mit.edu	37	15	42689037	42689037	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:42689037C>T	ENST00000397163.3	+	9	1374	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	CAPN3_ENST00000349748.3_Silent_p.A337A|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.A298A|CAPN3_ENST00000318023.7_Silent_p.A385A|CAPN3_ENST00000357568.3_Silent_p.A385A	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	385	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A385A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATGAGAAGGCCCGTCTGCAGC	0.537																																					p.A298A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C894T	15						.						94.0	85.0	88.0					15																	42689037		2203	4299	6502	40476329	SO:0001819	synonymous_variant	825	exon13			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1155C>T	15.37:g.42689037C>T			40476329	NM_212465	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	CCDS45245.1																																																																																				0.537	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1		
ELL3	80237	broad.mit.edu	37	15	44068281	44068281	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:44068281C>A	ENST00000319359.3	-	3	878	c.237G>T	c.(235-237)gaG>gaT	p.E79D	SERF2_ENST00000381359.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	79					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.E79D(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)		CACCAGCGCCCTCCTGACAAC	0.582																																					p.E79D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G237T	15						.						104.0	92.0	96.0					15																	44068281		2198	4298	6496	41855573	SO:0001583	missense	80237	exon3			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.237G>T	15.37:g.44068281C>A	ENSP00000320346:p.Glu79Asp		41855573	NM_025165	B3KQ66|B3KX08|Q6I9Z7|Q9H634	De_novo_Start_OutOfFrame	SNP	ENST00000319359.3	37	CCDS10102.1	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090914	0.20471	.	.	ENSG00000128886	ENST00000319359;ENST00000433927	T;T	0.27720	1.65;1.65	5.67	-6.18	0.02085	.	0.307172	0.28067	N	0.016729	T	0.09818	0.0241	L	0.27053	0.805	0.23581	N	0.99737	B;B	0.11235	0.004;0.004	B;B	0.13407	0.009;0.009	T	0.40869	-0.9540	10	0.02654	T	1	-8.3588	0.0486	0.00011	0.3278:0.1901:0.2007:0.2813	.	79;33	Q9HB65;B3KQ66	ELL3_HUMAN;.	D	79;109	ENSP00000320346:E79D;ENSP00000404209:E109D	ENSP00000320346:E79D	E	-	3	2	ELL3	41855573	0.004000	0.15560	0.423000	0.26634	0.930000	0.56654	-1.046000	0.03525	-0.759000	0.04684	-0.136000	0.14681	GAG		0.582	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2	NM_025165	
DTWD1	56986	broad.mit.edu	37	15	49917518	49917518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:49917518C>T	ENST00000251250.6	+	3	361	c.154C>T	c.(154-156)Caa>Taa	p.Q52*	DTWD1_ENST00000403028.3_Nonsense_Mutation_p.Q52*|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000329873.5_Nonsense_Mutation_p.Q52*|DTWD1_ENST00000558653.1_Nonsense_Mutation_p.Q52*	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	52								p.Q52*(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AAAAGCTCAGCAAAGTGGGAG	0.368																																					p.Q52X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C154T	15						.						79.0	75.0	77.0					15																	49917518		2196	4292	6488	47704810	SO:0001587	stop_gained	56986	exon2			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.154C>T	15.37:g.49917518C>T	ENSP00000251250:p.Gln52*		47704810	NM_001144955	Q567Q3|Q8WVG9|Q9NRU6	Nonsense_Mutation	SNP	ENST00000251250.6	37	CCDS10132.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798444	0.70567	.	.	ENSG00000104047	ENST00000403028;ENST00000329873;ENST00000251250	.	.	.	5.09	3.04	0.35103	.	0.482752	0.25086	N	0.033248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.9528	8.4535	0.32884	0.4605:0.4185:0.121:0.0	.	.	.	.	X	52	.	.	Q	+	1	0	DTWD1	47704810	1.000000	0.71417	0.989000	0.46669	0.984000	0.73092	2.239000	0.43079	1.234000	0.43709	0.591000	0.81541	CAA		0.368	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234	
ATP8B4	79895	broad.mit.edu	37	15	50271892	50271892	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:50271892G>A	ENST00000284509.6	-	12	1097	c.956C>T	c.(955-957)tCt>tTt	p.S319F	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S319F|ATP8B4_ENST00000558959.1_5'UTR|RNA5SP394_ENST00000364216.1_RNA	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	319						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.S319F(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGAGAACACAGAGCTCTTCTC	0.363																																					p.S319F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C956T	15						.						111.0	121.0	117.0					15																	50271892		2196	4295	6491	48059184	SO:0001583	missense	79895	exon12			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.956C>T	15.37:g.50271892G>A	ENSP00000284509:p.Ser319Phe		48059184	NM_024837	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	9.018	0.984085	0.18889	.	.	ENSG00000104043	ENST00000284509	D	0.91068	-2.78	5.68	2.63	0.31362	ATPase, P-type, ATPase-associated domain (1);	0.526462	0.21818	N	0.068665	D	0.86272	0.5893	L	0.52011	1.625	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.75499	-0.3296	10	0.45353	T	0.12	.	9.3157	0.37932	0.254:0.0:0.746:0.0	.	319	Q8TF62	AT8B4_HUMAN	F	319	ENSP00000284509:S319F	ENSP00000284509:S319F	S	-	2	0	ATP8B4	48059184	0.434000	0.25570	0.034000	0.17996	0.934000	0.57294	3.377000	0.52425	0.280000	0.22209	-0.355000	0.07637	TCT		0.363	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
HDC	3067	broad.mit.edu	37	15	50535201	50535201	+	Silent	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:50535201A>G	ENST00000267845.3	-	12	1647	c.1245T>C	c.(1243-1245)ggT>ggC	p.G415G	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Silent_p.G382G	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.G415G(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)		GACAATTAGGACCCTGTTTGA	0.483																																					p.G415G	GBM(95;1627 1936 6910 9570)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1245C	15						.						36.0	40.0	38.0					15																	50535201		2194	4294	6488	48322493	SO:0001819	synonymous_variant	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.1245T>C	15.37:g.50535201A>G			48322493	NM_002112		Silent	SNP	ENST00000267845.3	37	CCDS10134.1																																																																																				0.483	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1		
DMXL2	23312	broad.mit.edu	37	15	51795011	51795011	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:51795011G>T	ENST00000251076.5	-	17	3271	c.2984C>A	c.(2983-2985)cCt>cAt	p.P995H	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.P995H	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	995						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.P995H(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACCTGCTGAAGGCGTTGCTCT	0.398																																					p.P995H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2984A	15						.						103.0	100.0	101.0					15																	51795011		2195	4293	6488	49582303	SO:0001583	missense	23312	exon17			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2984C>A	15.37:g.51795011G>T	ENSP00000251076:p.Pro995His		49582303	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562454	0.86335	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.56103	0.48;0.48	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.76219	0.3957	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80153	-0.1501	10	0.87932	D	0	.	18.9501	0.92638	0.0:0.0:1.0:0.0	.	995;995	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	H	995	ENSP00000251076:P995H;ENSP00000441858:P995H	ENSP00000251076:P995H	P	-	2	0	DMXL2	49582303	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.151000	0.94674	2.459000	0.83118	0.644000	0.83932	CCT		0.398	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
UNC13C	440279	broad.mit.edu	37	15	54306438	54306438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:54306438G>A	ENST00000260323.11	+	1	1338	c.1338G>A	c.(1336-1338)tgG>tgA	p.W446*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.W446*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.W446*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	446					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.W446*(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGAACAATTGGCAGTCACCTG	0.413																																					p.W446X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1338A	15						.						110.0	107.0	108.0					15																	54306438		1900	4114	6014	52093730	SO:0001587	stop_gained	440279	exon1			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1338G>A	15.37:g.54306438G>A	ENSP00000260323:p.Trp446*		52093730	NM_001080534	Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	38	7.230885	0.98150	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7181	0.88343	0.0:0.0:1.0:0.0	.	.	.	.	X	446	.	ENSP00000260323:W446X	W	+	3	0	UNC13C	52093730	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	9.259000	0.95561	2.665000	0.90641	0.655000	0.94253	TGG		0.413	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
TCF12	6938	broad.mit.edu	37	15	57565319	57565319	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:57565319C>T	ENST00000267811.5	+	18	2069	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	TCF12_ENST00000343827.3_Missense_Mutation_p.R419C|TCF12_ENST00000559703.1_Missense_Mutation_p.R246C|TCF12_ENST00000559710.1_Missense_Mutation_p.R223C|TCF12_ENST00000333725.5_Missense_Mutation_p.R613C|TCF12_ENST00000537840.1_Missense_Mutation_p.R353C|TCF12_ENST00000557843.1_Missense_Mutation_p.R589C|TCF12_ENST00000543579.1_Missense_Mutation_p.R443C|TCF12_ENST00000438423.2_Missense_Mutation_p.R613C|TCF12_ENST00000452095.2_Missense_Mutation_p.R609C	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	589	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.R609C(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		AGAACGCTTACGCGTGCGGGA	0.428			T	TEC	extraskeletal myxoid chondrosarcoma																																p.R613C			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1837T	15						.						98.0	105.0	102.0					15																	57565319		2192	4292	6484	55352611	SO:0001583	missense	6938	exon19			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1765C>T	15.37:g.57565319C>T	ENSP00000267811:p.Arg589Cys		55352611	NM_207037	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568168	0.86439	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	D;D;D;D;D;D;D	0.99722	-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53	4.72	4.72	0.59763	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.995;0.999;1.0;0.992;0.999;0.998;0.996;0.996;0.994	D	0.96981	0.9715	10	0.87932	D	0	-14.1354	18.0262	0.89270	0.0:1.0:0.0:0.0	.	609;223;443;353;609;641;443;419;589;613	B4DGI9;B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;.;HTF4_HUMAN;.	C	641;589;613;609;613;443;353;419;201	ENSP00000267811:R589C;ENSP00000388940:R613C;ENSP00000396881:R609C;ENSP00000331057:R613C;ENSP00000440017:R443C;ENSP00000444696:R353C;ENSP00000342459:R419C	ENSP00000267811:R589C	R	+	1	0	TCF12	55352611	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	6.026000	0.70873	2.329000	0.79093	0.655000	0.94253	CGC		0.428	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	
MYZAP	100820829	broad.mit.edu	37	15	57913837	57913837	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:57913837G>A	ENST00000267853.5	+	4	444	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	GCOM1_ENST00000587652.1_Missense_Mutation_p.R117Q|GCOM1_ENST00000380560.2_Intron|POLR2M_ENST00000380563.2_Intron|MYZAP_ENST00000380565.4_Missense_Mutation_p.R117Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.R117Q|GCOM1_ENST00000574161.1_Missense_Mutation_p.R117Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.R117Q|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000572390.1_Missense_Mutation_p.R117Q|GCOM1_ENST00000396180.1_Intron			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	117					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)		p.R117Q(1)									GTGAGAAAGCGAATGTATGGA	0.403																																					p.R117Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G350A	15						.						143.0	134.0	137.0					15																	57913837		2192	4292	6484	55701129	SO:0001583	missense	145781	exon4			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.350G>A	15.37:g.57913837G>A	ENSP00000267853:p.Arg117Gln		55701129	NM_152451	D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.063082	0.55432	.	.	ENSG00000137878	ENST00000380569;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.66	4.73	0.59995	.	0.180261	0.46145	D	0.000316	T	0.19604	0.0471	N	0.25647	0.755	0.80722	D	1	B;B;B;B	0.26708	0.016;0.069;0.04;0.157	B;B;B;B	0.17098	0.003;0.008;0.004;0.017	T	0.06356	-1.0831	10	0.08599	T	0.76	-2.7833	8.1191	0.30961	0.2123:0.0:0.7877:0.0	.	117;117;117;117	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	Q	117	ENSP00000369943:R117Q;ENSP00000267853:R117Q;ENSP00000369939:R117Q;ENSP00000369942:R117Q	ENSP00000267853:R117Q	R	+	2	0	GCOM1	55701129	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.641000	0.46587	2.827000	0.97445	0.643000	0.83706	CGA		0.403	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100	
GCNT3	9245	broad.mit.edu	37	15	59910945	59910945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:59910945G>T	ENST00000396065.1	+	3	956	c.508G>T	c.(508-510)Gaa>Taa	p.E170*	GCNT3_ENST00000560585.1_Nonsense_Mutation_p.E170*	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	170					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.E170*(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAAGTCCCCAGAAACTTTCAA	0.453																																					p.E170X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G508T	15						.						101.0	99.0	100.0					15																	59910945		2190	4290	6480	57698237	SO:0001587	stop_gained	9245	exon3			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.508G>T	15.37:g.59910945G>T	ENSP00000379377:p.Glu170*		57698237	NM_004751		Nonsense_Mutation	SNP	ENST00000396065.1	37	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	G	40	8.425545	0.98806	.	.	ENSG00000140297	ENST00000396065	.	.	.	6.16	6.16	0.99307	.	0.528716	0.20798	N	0.085492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	17.0356	0.86474	0.0:0.1268:0.8732:0.0	.	.	.	.	X	170	.	ENSP00000379377:E170X	E	+	1	0	GCNT3	57698237	0.006000	0.16342	0.998000	0.56505	0.954000	0.61252	1.213000	0.32407	2.937000	0.99478	0.650000	0.86243	GAA		0.453	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751	
VPS13C	54832	broad.mit.edu	37	15	62155675	62155675	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:62155675G>T	ENST00000261517.5	-	82	10989	c.10916C>A	c.(10915-10917)cCt>cAt	p.P3639H	VPS13C_ENST00000249837.3_Missense_Mutation_p.P3596H	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.P3639H(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						CTTGCTTCCAGGAATAGCACA	0.363																																					p.P3596H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10787A	15						.						167.0	145.0	153.0					15																	62155675		2203	4300	6503	59942967	SO:0001583	missense	54832	exon80			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.10916C>A	15.37:g.62155675G>T	ENSP00000261517:p.Pro3639His		59942967	NM_017684		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782553	0.31502	.	.	ENSG00000129003	ENST00000249837;ENST00000261517	T;T	0.50277	0.75;0.75	5.68	2.83	0.33086	.	0.546215	0.19185	N	0.120573	T	0.40272	0.1110	L	0.52905	1.665	0.09310	N	0.999996	B;B	0.15719	0.014;0.004	B;B	0.22386	0.039;0.007	T	0.36456	-0.9747	10	0.51188	T	0.08	.	6.2282	0.20720	0.2028:0.0:0.6676:0.1295	.	3596;3639	Q709C8-3;Q709C8	.;VP13C_HUMAN	H	3596;3639	ENSP00000249837:P3596H;ENSP00000261517:P3639H	ENSP00000249837:P3596H	P	-	2	0	VPS13C	59942967	1.000000	0.71417	0.005000	0.12908	0.769000	0.43574	3.497000	0.53295	0.444000	0.26612	-0.229000	0.12294	CCT		0.363	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
SNX1	6642	broad.mit.edu	37	15	64410318	64410318	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:64410318G>A	ENST00000559844.1	+	3	288	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	SNX1_ENST00000353874.4_Missense_Mutation_p.A92T|SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000561026.1_Intron|SNX1_ENST00000261889.5_Missense_Mutation_p.A92T			Q13596	SNX1_HUMAN	sorting nexin 1	92					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.A92T(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CATTTTAGATGCCACAGTGGA	0.383																																					p.A92T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G274A	15						.						74.0	73.0	73.0					15																	64410318		2203	4300	6503	62197371	SO:0001583	missense	6642	exon3			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.274G>A	15.37:g.64410318G>A	ENSP00000453785:p.Ala92Thr		62197371	NM_003099	A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264701	0.95399	.	.	ENSG00000028528	ENST00000380285;ENST00000353874	T	0.63417	-0.04	5.87	5.87	0.94306	.	0.159208	0.56097	D	0.000028	T	0.73659	0.3615	L	0.50333	1.59	0.80722	D	1	D;P;D	0.63046	0.992;0.955;0.992	D;P;D	0.67900	0.954;0.763;0.954	T	0.68150	-0.5485	10	0.32370	T	0.25	-4.6913	17.7375	0.88397	0.0:0.0:1.0:0.0	.	92;92;92	Q6ZRJ8;A6NKH4;Q13596	.;.;SNX1_HUMAN	T	92	ENSP00000326668:A92T	ENSP00000326668:A92T	A	+	1	0	SNX1	62197371	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	8.661000	0.91125	2.941000	0.99782	0.655000	0.94253	GCC		0.383	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099	
SPG21	51324	broad.mit.edu	37	15	65261617	65261617	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:65261617C>T	ENST00000204566.2	-	7	939	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	SPG21_ENST00000559199.1_Missense_Mutation_p.R61Q|SPG21_ENST00000433215.2_Missense_Mutation_p.R215Q|SPG21_ENST00000416889.2_Missense_Mutation_p.R188Q	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	215					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)	p.R215Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AGGTATGTCCCGAATTTTATG	0.343																																					p.R215Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G644A	15						.						99.0	104.0	102.0					15																	65261617		2202	4299	6501	63048670	SO:0001583	missense	51324	exon7			AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.644G>A	15.37:g.65261617C>T	ENSP00000204566:p.Arg215Gln		63048670	NM_001127889	B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622602	0.28889	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T;T	0.67865	-0.29;-0.29;-0.29	5.96	5.05	0.67936	.	0.103897	0.64402	D	0.000003	T	0.35278	0.0926	N	0.01109	-1.01	0.46849	D	0.999223	B;B	0.17465	0.022;0.003	B;B	0.11329	0.003;0.006	T	0.29822	-0.9999	10	0.12103	T	0.63	-13.4849	13.8851	0.63704	0.0:0.9266:0.0:0.0734	.	188;215	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	Q	215;188;215	ENSP00000204566:R215Q;ENSP00000394846:R188Q;ENSP00000404111:R215Q	ENSP00000204566:R215Q	R	-	2	0	SPG21	63048670	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.370000	0.66144	1.527000	0.49086	-0.142000	0.14014	CGG		0.343	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630	
DPP8	54878	broad.mit.edu	37	15	65771245	65771245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:65771245G>A	ENST00000341861.5	-	11	3057	c.1477C>T	c.(1477-1479)Cga>Tga	p.R493*	DPP8_ENST00000321147.6_Nonsense_Mutation_p.R493*|DPP8_ENST00000559233.1_Nonsense_Mutation_p.R493*|DPP8_ENST00000339244.5_Intron|DPP8_ENST00000358939.4_Nonsense_Mutation_p.R477*|DPP8_ENST00000300141.6_Nonsense_Mutation_p.R477*|DPP8_ENST00000321118.7_Nonsense_Mutation_p.R493*	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	493					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.R477*(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCACTGGATCGTTTATATTTG	0.358																																					p.R477X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1429T	15						.						58.0	59.0	58.0					15																	65771245		2201	4299	6500	63558298	SO:0001587	stop_gained	54878	exon11			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1477C>T	15.37:g.65771245G>A	ENSP00000339208:p.Arg493*		63558298	NM_017743	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Nonsense_Mutation	SNP	ENST00000341861.5	37	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	G	39	7.469539	0.98302	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000395652	.	.	.	5.55	4.58	0.56647	.	0.099543	0.41194	D	0.000940	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-10.6631	15.198	0.73108	0.0:0.0:0.8585:0.1415	.	.	.	.	X	493;477;477;493;493;493	.	ENSP00000300141:R477X	R	-	1	2	DPP8	63558298	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.239000	0.51360	2.605000	0.88082	0.557000	0.71058	CGA		0.358	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743	
VWA9	81556	broad.mit.edu	37	15	65899641	65899641	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:65899641C>T	ENST00000395644.4	-	2	413	c.78G>A	c.(76-78)caG>caA	p.Q26Q	VWA9_ENST00000442903.3_Silent_p.Q26Q|VWA9_ENST00000420799.2_Intron|VWA9_ENST00000567744.1_Silent_p.Q62Q|VWA9_ENST00000569491.1_Splice_Site_p.Q26Q|VWA9_ENST00000313182.2_Silent_p.Q26Q|VWA9_ENST00000431261.2_5'UTR			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	26	VWFA.							p.Q26Q(1)									GGTGCTTACGCTGGTATTCCT	0.463																																					p.Q26Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G78A	15						.						126.0	104.0	111.0					15																	65899641		2201	4299	6500	63686694	SO:0001819	synonymous_variant	81556	exon2			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.78G>A	15.37:g.65899641C>T			63686694	NM_030800	B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	ENST00000395644.4	37																																																																																					0.463	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800	
KIF23	9493	broad.mit.edu	37	15	69718690	69718690	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:69718690G>A	ENST00000260363.4	+	9	980	c.863G>A	c.(862-864)cGt>cAt	p.R288H	KIF23_ENST00000558585.1_Missense_Mutation_p.R105H|KIF23_ENST00000559279.1_Missense_Mutation_p.R288H|KIF23_ENST00000395392.2_Missense_Mutation_p.R288H|KIF23_ENST00000537891.1_Missense_Mutation_p.R105H|KIF23_ENST00000352331.4_Missense_Mutation_p.R288H	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	288	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)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.R288H(2)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AAAAAGAGACGTATTGCTAAT	0.398																																					p.R288H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G863A	15						.						238.0	230.0	233.0					15																	69718690		2199	4298	6497	67505744	SO:0001583	missense	9493	exon9			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.863G>A	15.37:g.69718690G>A	ENSP00000260363:p.Arg288His		67505744	NM_004856	Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885857	0.91814	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.099034	0.64402	D	0.000003	T	0.81226	0.4778	L	0.33710	1.025	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.83275	0.719;0.996;0.995	T	0.81653	-0.0835	10	0.52906	T	0.07	.	18.6586	0.91463	0.0:0.0:1.0:0.0	.	105;288;288	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	H	288;288;288;105	ENSP00000260363:R288H;ENSP00000304978:R288H;ENSP00000378790:R288H;ENSP00000442969:R105H	ENSP00000260363:R288H	R	+	2	0	KIF23	67505744	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.659000	0.68010	2.635000	0.89317	0.655000	0.94253	CGT		0.398	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
THSD4	79875	broad.mit.edu	37	15	72069651	72069651	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:72069651G>A	ENST00000355327.3	+	18	3129	c.2995G>A	c.(2995-2997)Gcc>Acc	p.A999T	THSD4_ENST00000261862.6_Missense_Mutation_p.A999T|THSD4_ENST00000357769.4_Missense_Mutation_p.A639T			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	999	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.A999T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTACAAGACCGCCTGCTGTGC	0.547																																					p.A999T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2995A	15						.						81.0	84.0	83.0					15																	72069651		2100	4216	6316	69856705	SO:0001583	missense	79875	exon17			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2995G>A	15.37:g.72069651G>A	ENSP00000347484:p.Ala999Thr		69856705	NM_024817	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	7.362	0.625008	0.14257	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.45668	0.89;0.89;0.89	4.85	4.85	0.62838	PLAC (2);	.	.	.	.	T	0.24353	0.0590	N	0.24115	0.695	0.42035	D	0.991043	B;P	0.39665	0.268;0.682	B;B	0.32805	0.089;0.153	T	0.10132	-1.0643	9	0.06625	T	0.88	.	15.4645	0.75387	0.0:0.0:1.0:0.0	.	639;999	B4DR13;Q6ZMP0	.;THSD4_HUMAN	T	999;999;639	ENSP00000347484:A999T;ENSP00000261862:A999T;ENSP00000350413:A639T	ENSP00000261862:A999T	A	+	1	0	THSD4	69856705	1.000000	0.71417	0.931000	0.37212	0.835000	0.47333	5.251000	0.65438	2.238000	0.73509	0.655000	0.94253	GCC		0.547	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817	
NR2E3	10002	broad.mit.edu	37	15	72104309	72104309	+	RNA	SNP	C	C	T	rs527236086		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:72104309C>T	ENST00000398840.2	+	0	554							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R122C(1)		breast(1)|endometrium(1)|lung(1)	3						GCAGAACGAGCGCCAGCCGCG	0.716																																					p.R122C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C364T	15						.						11.0	19.0	16.0					15																	72104309		2035	4048	6083	69891363			10002	exon4				CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"""Nuclear hormone receptors"""	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72104309C>T			69891363	NM_014249	B6ZGU0|Q9UHM4	Missense_Mutation	SNP	ENST00000398840.2	37		.	.	.	.	.	.	.	.	.	.	C	9.558	1.117638	0.20877	.	.	ENSG00000031544	ENST00000326995;ENST00000398840	.	.	.	4.45	4.45	0.53987	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	0.234168	0.44902	D	0.000407	T	0.78528	0.4297	M	0.72353	2.195	0.48762	D	0.999700	D	0.89917	1.0	D	0.87578	0.998	T	0.82784	-0.0286	8	0.87932	D	0	.	17.1308	0.86726	0.0:1.0:0.0:0.0	.	122	Q9Y5X4	NR2E3_HUMAN	C	34;122	.	ENSP00000317199:R34C	R	+	1	0	NR2E3	69891363	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	7.533000	0.81994	2.033000	0.60031	0.485000	0.47835	CGC		0.716	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014249	
HCN4	10021	broad.mit.edu	37	15	73622056	73622056	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:73622056C>T	ENST00000261917.3	-	4	2441	c.1448G>A	c.(1447-1449)cGg>cAg	p.R483Q		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	483					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R483Q(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGCGCCTGCCGCCCGTAGCC	0.632																																					p.R483Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1448A	15						.						75.0	71.0	72.0					15																	73622056		2198	4297	6495	71409109	SO:0001583	missense	10021	exon4			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1448G>A	15.37:g.73622056C>T	ENSP00000261917:p.Arg483Gln		71409109	NM_005477	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934891	0.34189	.	.	ENSG00000138622	ENST00000261917	D	0.97378	-4.36	4.16	1.78	0.24846	Ion transport (1);	.	.	.	.	D	0.90724	0.7089	N	0.20986	0.625	0.40603	D	0.981607	B	0.06786	0.001	B	0.01281	0.0	T	0.82788	-0.0284	9	0.16420	T	0.52	.	4.3053	0.10944	0.0:0.4374:0.0:0.5626	.	483	Q9Y3Q4	HCN4_HUMAN	Q	483	ENSP00000261917:R483Q	ENSP00000261917:R483Q	R	-	2	0	HCN4	71409109	1.000000	0.71417	0.850000	0.33497	0.566000	0.35808	4.178000	0.58284	0.865000	0.35603	0.561000	0.74099	CGG		0.632	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477	
ISLR2	57611	broad.mit.edu	37	15	74427136	74427136	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:74427136G>A	ENST00000361742.3	+	4	2810	c.2041G>A	c.(2041-2043)Gcg>Acg	p.A681T	ISLR2_ENST00000445793.1_Missense_Mutation_p.A681T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A681T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.A681T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A681T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A681T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A681T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	681					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A681T(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGATGAAGACGCGGAGCAGGG	0.662											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A681T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2041A	15						.						43.0	49.0	47.0					15																	74427136		2198	4297	6495	72214189	SO:0001583	missense	57611	exon3				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.2041G>A	15.37:g.74427136G>A	ENSP00000355402:p.Ala681Thr	1152	72214189	NM_020851	A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	5.475	0.272741	0.10349	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	4.69	2.67	0.31697	.	.	.	.	.	T	0.31482	0.0798	N	0.14661	0.345	0.09310	N	1	B	0.31519	0.327	B	0.17433	0.018	T	0.07083	-1.0791	9	0.35671	T	0.21	.	10.8706	0.46881	0.0:0.3705:0.6295:0.0	.	681	Q6UXK2	ISLR2_HUMAN	T	681;681;681;681;270;681	ENSP00000403244:A681T;ENSP00000355402:A681T;ENSP00000411443:A681T;ENSP00000411834:A681T;ENSP00000408872:A681T	ENSP00000355402:A681T	A	+	1	0	ISLR2	72214189	1.000000	0.71417	0.564000	0.28396	0.203000	0.24098	2.264000	0.43302	0.332000	0.23536	0.313000	0.20887	GCG		0.662	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851	
CYP1A1	1543	broad.mit.edu	37	15	75014700	75014700	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:75014700A>G	ENST00000379727.3	-	2	937	c.739T>C	c.(739-741)Tcc>Ccc	p.S247P	CYP1A1_ENST00000395048.2_Missense_Mutation_p.S247P|CYP1A1_ENST00000567032.1_Missense_Mutation_p.S247P|CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000395049.4_Missense_Mutation_p.S247P			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	247					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.S247P(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	GCATTCAGGGAAGGGTTGGGT	0.478									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												p.S247P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T739C	15						.						89.0	85.0	86.0					15																	75014700		2197	4296	6493	72801753	SO:0001583	missense	1543	exon2	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.739T>C	15.37:g.75014700A>G	ENSP00000369050:p.Ser247Pro		72801753	NM_000499	A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	A	3.788	-0.044213	0.07452	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049	T;T;T	0.68624	-0.34;-0.34;-0.34	5.0	-8.65	0.00870	.	1.030670	0.07631	N	0.928630	T	0.46308	0.1386	L	0.31845	0.965	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.12837	0.008;0.008	T	0.23297	-1.0192	10	0.23891	T	0.37	.	7.938	0.29941	0.1754:0.4:0.0:0.4246	.	247;247	E7EMT5;P04798	.;CP1A1_HUMAN	P	247	ENSP00000369050:S247P;ENSP00000378488:S247P;ENSP00000378489:S247P	ENSP00000369050:S247P	S	-	1	0	CYP1A1	72801753	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-2.278000	0.01159	-1.925000	0.01063	-0.406000	0.06334	TCC		0.478	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499	
SIN3A	25942	broad.mit.edu	37	15	75702219	75702219	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:75702219G>A	ENST00000394947.3	-	8	1589	c.1275C>T	c.(1273-1275)tgC>tgT	p.C425C	SIN3A_ENST00000360439.4_Silent_p.C425C|SIN3A_ENST00000394949.4_Silent_p.C425C	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.C425C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGCGGATCTGGCAGCCATTCT	0.507																																					p.C425C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1275T	15						.						134.0	134.0	134.0					15																	75702219		2197	4294	6491	73489272	SO:0001819	synonymous_variant	25942	exon8			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1275C>T	15.37:g.75702219G>A			73489272	NM_001145358		Silent	SNP	ENST00000394947.3	37	CCDS10279.1																																																																																				0.507	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
FAH	2184	broad.mit.edu	37	15	80473405	80473405	+	Missense_Mutation	SNP	A	A	G	rs371659518		TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:80473405A>G	ENST00000407106.1	+	14	1239	c.1084A>G	c.(1084-1086)Atg>Gtg	p.M362V	FAH_ENST00000261755.5_Missense_Mutation_p.M362V|FAH_ENST00000539156.1_Missense_Mutation_p.M292V|FAH_ENST00000561421.1_Missense_Mutation_p.M362V			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	362					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)	p.M362V(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCGGCTCCATGTTGGAACT	0.498									Tyrosinemia, type 1																												p.M362V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1084G	15						.	A	VAL/MET	0,4406		0,0,2203	133.0	124.0	127.0		1084	-2.4	0.9	15		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAH	NM_000137.2	21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	362/420	80473405	1,13005	2203	4300	6503	78260460	SO:0001583	missense	2184	exon13	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.1084A>G	15.37:g.80473405A>G	ENSP00000385080:p.Met362Val		78260460	NM_000137	B2R9X1|D3DW95|Q53XA7	Missense_Mutation	SNP	ENST00000407106.1	37	CCDS10314.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.446847	0.63178	0.0	1.16E-4	ENSG00000103876	ENST00000407106;ENST00000261755;ENST00000539156	D;D;D	0.96491	-4.03;-4.03;-4.03	5.31	-2.39	0.06602	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.088488	0.85682	D	0.000000	D	0.96953	0.9005	M	0.85041	2.73	0.52501	D	0.999952	D	0.59767	0.986	P	0.60415	0.874	D	0.95282	0.8387	10	0.87932	D	0	-16.7592	9.4154	0.38519	0.3778:0.5009:0.0:0.1213	.	362	P16930	FAAA_HUMAN	V	362;362;292	ENSP00000385080:M362V;ENSP00000261755:M362V;ENSP00000454271:M292V	ENSP00000261755:M362V	M	+	1	0	FAH	78260460	0.996000	0.38824	0.942000	0.38095	0.729000	0.41735	0.859000	0.27858	-0.325000	0.08577	0.533000	0.62120	ATG		0.498	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2		
BTBD1	53339	broad.mit.edu	37	15	83710510	83710510	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:83710510G>A	ENST00000261721.4	-	4	1034	c.832C>T	c.(832-834)Cca>Tca	p.P278S	BTBD1_ENST00000379403.2_Missense_Mutation_p.P278S|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000560015.1_5'UTR	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	278					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)		p.P278S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTCATCAGTGGGAACCGGATT	0.418																																					p.P278S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C832T	15						.						108.0	109.0	109.0					15																	83710510		2203	4300	6503	81501514	SO:0001583	missense	53339	exon4			AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.832C>T	15.37:g.83710510G>A	ENSP00000261721:p.Pro278Ser		81501514	NM_025238	A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984693	0.93044	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.70045	-0.45;-0.45	5.62	5.62	0.85841	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.85133	0.5627	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.989	D	0.87095	0.2175	10	0.87932	D	0	-17.5533	19.6517	0.95819	0.0:0.0:1.0:0.0	.	278;278	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	S	278	ENSP00000261721:P278S;ENSP00000368713:P278S	ENSP00000261721:P278S	P	-	1	0	BTBD1	81501514	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.618000	0.98365	2.662000	0.90505	0.655000	0.94253	CCA		0.418	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1		
AGBL1	123624	broad.mit.edu	37	15	86940645	86940645	+	Missense_Mutation	SNP	G	G	A	rs140873349	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:86940645G>A	ENST00000441037.2	+	17	2380	c.2285G>A	c.(2284-2286)aGc>aAc	p.S762N	AGBL1_ENST00000421325.2_Missense_Mutation_p.S762N|AGBL1_ENST00000389298.3_Missense_Mutation_p.S493N	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	762					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.S762N(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CCAGGAGAGAGCAATGCCAGT	0.453																																					p.S762N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2285A	15						.						132.0	128.0	130.0					15																	86940645		1983	4157	6140	84741649	SO:0001583	missense	123624	exon17			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2285G>A	15.37:g.86940645G>A	ENSP00000413001:p.Ser762Asn		84741649	NM_152336	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967748	0.74131	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10668	2.85;2.85	5.49	5.49	0.81192	Peptidase M14, carboxypeptidase A (1);	0.133888	0.50627	D	0.000107	T	0.35008	0.0917	M	0.81497	2.545	0.29376	N	0.863674	D	0.89917	1.0	D	0.79784	0.993	T	0.21930	-1.0231	10	0.87932	D	0	-20.8066	14.3551	0.66733	0.0:0.1478:0.8522:0.0	.	762	Q96MI9	CBPC4_HUMAN	N	791;762;493	ENSP00000397173:S762N;ENSP00000373949:S493N	ENSP00000373949:S493N	S	+	2	0	AGBL1	84741649	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.134000	0.50538	2.733000	0.93635	0.655000	0.94253	AGC		0.453	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
RLBP1	6017	broad.mit.edu	37	15	89760482	89760482	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:89760482G>A	ENST00000268125.5	-	5	654	c.215C>T	c.(214-216)gCg>gTg	p.A72V		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	72					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.A72V(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GGCCGCCTGCGCCTGCACCAT	0.652																																					p.A72V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C215T	15						.						66.0	66.0	66.0					15																	89760482		2200	4299	6499	87561486	SO:0001583	missense	6017	exon5			BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"""retinaldehyde-binding protein 1"""			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.215C>T	15.37:g.89760482G>A	ENSP00000268125:p.Ala72Val		87561486	NM_000326	B2R667	Missense_Mutation	SNP	ENST00000268125.5	37	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424948	0.43020	.	.	ENSG00000140522	ENST00000268125	D	0.88818	-2.43	5.03	-3.3	0.05003	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.357463	0.32120	N	0.006555	T	0.79782	0.4505	L	0.31157	0.91	0.32085	N	0.592676	B	0.27166	0.17	B	0.20955	0.032	T	0.66476	-0.5914	10	0.52906	T	0.07	-12.9063	13.9826	0.64315	0.0:0.0762:0.1304:0.7935	.	72	P12271	RLBP1_HUMAN	V	72	ENSP00000268125:A72V	ENSP00000268125:A72V	A	-	2	0	RLBP1	87561486	1.000000	0.71417	0.177000	0.23020	0.793000	0.44817	1.783000	0.38664	-0.854000	0.04131	-1.431000	0.01090	GCG		0.652	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326	
RHCG	51458	broad.mit.edu	37	15	90021158	90021158	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:90021158G>A	ENST00000268122.4	-	6	953	c.885C>T	c.(883-885)acC>acT	p.T295T	RHCG_ENST00000544600.1_Silent_p.T295T	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	295					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.T295T(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TCTCAGCAGCGGTACCCACGG	0.617																																					p.T295T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C885T	15						.						63.0	60.0	61.0					15																	90021158		2200	4299	6499	87822162	SO:0001819	synonymous_variant	51458	exon6			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.885C>T	15.37:g.90021158G>A			87822162	NM_016321	A8K4D4|Q6X3Y4	Silent	SNP	ENST00000268122.4	37	CCDS10351.1																																																																																				0.617	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321	
ZNF710	374655	broad.mit.edu	37	15	90611710	90611710	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:90611710C>T	ENST00000268154.4	+	2	1592	c.1341C>T	c.(1339-1341)cgC>cgT	p.R447R		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	447					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.R447R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TCCACTACCGCAGCCAGTTGC	0.602																																					p.R447R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1341T	15						.						145.0	124.0	131.0					15																	90611710		2200	4298	6498	88412714	SO:0001819	synonymous_variant	374655	exon2			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1341C>T	15.37:g.90611710C>T			88412714	NM_198526	A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	CCDS10358.1																																																																																				0.602	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526	
IGF1R	3480	broad.mit.edu	37	15	99459970	99459970	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:99459970C>T	ENST00000268035.6	+	10	2677	c.2066C>T	c.(2065-2067)aCt>aTt	p.T689I	IGF1R_ENST00000558762.1_Missense_Mutation_p.T689I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	689	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.T689I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	AACCCCAAGACTGAGGTGTGT	0.532																																					p.T689I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2066T	15						.						78.0	79.0	79.0					15																	99459970		2197	4297	6494	97277493	SO:0001583	missense	3480	exon10			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2066C>T	15.37:g.99459970C>T	ENSP00000268035:p.Thr689Ile		97277493	NM_000875	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737510	0.49045	.	.	ENSG00000140443	ENST00000268035	T	0.69306	-0.39	5.07	5.07	0.68467	Fibronectin, type III (3);	0.104565	0.40728	N	0.001040	T	0.49695	0.1572	N	0.08118	0	0.47698	D	0.999495	B;B	0.22983	0.078;0.011	B;B	0.19946	0.021;0.027	T	0.46034	-0.9220	10	0.40728	T	0.16	.	18.6358	0.91378	0.0:1.0:0.0:0.0	.	689;689	C9J5X1;P08069	.;IGF1R_HUMAN	I	689	ENSP00000268035:T689I	ENSP00000268035:T689I	T	+	2	0	IGF1R	97277493	1.000000	0.71417	0.940000	0.37924	0.437000	0.31866	4.715000	0.61909	2.631000	0.89168	0.655000	0.94253	ACT		0.532	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
LRRC28	123355	broad.mit.edu	37	15	99828112	99828112	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:99828112G>A	ENST00000301981.3	+	5	581	c.341G>A	c.(340-342)cGt>cAt	p.R114H	LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.R114H|LRRC28_ENST00000442993.2_Missense_Mutation_p.R114H|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.R114H	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	114								p.R114H(1)		endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			AGAGCTTTACGTCATCTTCGA	0.378																																					p.R114H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G341A	15						.						158.0	153.0	155.0					15																	99828112		2197	4297	6494	97645635	SO:0001583	missense	123355	exon5			AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.341G>A	15.37:g.99828112G>A	ENSP00000304923:p.Arg114His		97645635	NM_144598	A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982676	0.74474	.	.	ENSG00000168904	ENST00000301981;ENST00000447360;ENST00000422500;ENST00000442993	T;T;T;T	0.65178	-0.14;-0.14;1.3;1.86	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.75125	0.3807	L	0.47016	1.485	0.80722	D	1	B;B;D	0.89917	0.017;0.013;1.0	B;B;D	0.81914	0.008;0.004;0.995	T	0.75124	-0.3428	10	0.59425	D	0.04	.	18.6354	0.91376	0.0:0.0:1.0:0.0	.	114;114;114	B4DHL3;Q86X40-2;Q86X40	.;.;LRC28_HUMAN	H	114	ENSP00000304923:R114H;ENSP00000404520:R114H;ENSP00000398606:R114H;ENSP00000404206:R114H	ENSP00000304923:R114H	R	+	2	0	LRRC28	97645635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.957000	0.93082	2.741000	0.93983	0.585000	0.79938	CGT		0.378	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598	
B2M	567	broad.mit.edu	37	15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:45003781_45003782delCT	ENST00000558401.1	+	1	107_108	c.37_38delCT	c.(37-39)ctcfs	p.L13fs	B2M_ENST00000559916.1_Frame_Shift_Del_p.L13fs|B2M_ENST00000544417.1_Frame_Shift_Del_p.L13fs|PATL2_ENST00000558573.1_5'Flank	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	13					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.L15fs*41(4)|p.A11fs*42(1)|p.L13F(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)		GCTCGCGCTACTCTCTCTTTCT	0.614																																					p.13_13del												.	.	6	Deletion - Frameshift(5)|Substitution - Missense(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|skin(1)	c.37_38del	15						.																																			42791074	SO:0001589	frameshift_variant	567	exon1			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.37_38delCT	15.37:g.45003787_45003788delCT	ENSP00000452780:p.Leu13fs		42791073	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	ENST00000558401.1	37	CCDS10113.1																																																																																				0.614	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048	
B2M	567	broad.mit.edu	37	15	45007753	45007753	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:45007753delA	ENST00000558401.1	+	2	270	c.200delA	c.(199-201)gaafs	p.E67fs	B2M_ENST00000559916.1_Frame_Shift_Del_p.E67fs|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Frame_Shift_Del_p.E67fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	67	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.V69fs*34(1)|p.K61_L74del(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)		GAGAGAATTGAAAAAGTGGAG	0.418																																					p.E67fs												.	.	2	Deletion - Frameshift(1)|Deletion - In frame(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.200delA	15						.						197.0	203.0	201.0					15																	45007753		2198	4298	6496	42795045	SO:0001589	frameshift_variant	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.200delA	15.37:g.45007753delA	ENSP00000452780:p.Glu67fs		42795045	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	ENST00000558401.1	37	CCDS10113.1																																																																																				0.418	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048	
DUOX1	53905	broad.mit.edu	37	15	45433500	45433502	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:45433500_45433502delAAG	ENST00000321429.4	+	15	1983_1985	c.1576_1578delAAG	c.(1576-1578)aagdel	p.K527del	DUOX1_ENST00000561166.1_In_Frame_Del_p.K173del|DUOX1_ENST00000389037.3_In_Frame_Del_p.K527del	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	527	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.K526delK(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCTGTTCTCCAAGAAGGAGATTG	0.532																																					p.526_526del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1576_1578del	15						.																																			43220794	SO:0001651	inframe_deletion	53905	exon15			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1576_1578delAAG	15.37:g.45433503_45433505delAAG	ENSP00000317997:p.Lys527del		43220792	NM_017434	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	In_Frame_Del	DEL	ENST00000321429.4	37	CCDS32221.1																																																																																				0.532	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434	
NGRN	51335	broad.mit.edu	37	15	90809018	90809018	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:90809018delG	ENST00000379095.3	+	1	82	c.74delG	c.(73-75)cggfs	p.R25fs	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_Intron	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	25					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V27fs*31(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TTCGCGACCCGGGGGGTGGCG	0.692																																					p.R25fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.74delG	15						.						12.0	16.0	15.0					15																	90809018		2161	4252	6413	88610022	SO:0001589	frameshift_variant	51335	exon1			AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.74delG	15.37:g.90809018delG	ENSP00000368389:p.Arg25fs		88610022	NM_001033088	B2R6M8|Q4V9L7|Q9HBL4	Frame_Shift_Del	DEL	ENST00000379095.3	37	CCDS32329.1																																																																																				0.692	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1		
LRRK1	79705	broad.mit.edu	37	15	101597218	101597218	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr15:101597218C>T	ENST00000388948.3	+	28	4849	c.4490C>T	c.(4489-4491)gCg>gTg	p.A1497V	LRRK1_ENST00000284395.5_Missense_Mutation_p.A1494V|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.A1509V(1)|p.A1497V(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGACTGCAGGCGCTCATGATG	0.637																																					p.A1497V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4490T	15						.						63.0	73.0	70.0					15																	101597218		2011	4174	6185	99414741	SO:0001583	missense	79705	exon28			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4490C>T	15.37:g.101597218C>T	ENSP00000373600:p.Ala1497Val		99414741	NM_024652		Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	c	9.587	1.125200	0.20959	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	D;D	0.93659	-3.26;-3.26	5.05	4.13	0.48395	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.571183	0.19347	N	0.116506	D	0.88980	0.6585	L	0.48877	1.53	0.31140	N	0.706712	B	0.11235	0.004	B	0.08055	0.003	D	0.84873	0.0826	10	0.42905	T	0.14	.	8.018	0.30393	0.1591:0.7601:0.0:0.0808	.	1497	Q38SD2	LRRK1_HUMAN	V	1497;1494;188;51	ENSP00000373600:A1497V;ENSP00000284395:A1494V	ENSP00000284395:A1494V	A	+	2	0	LRRK1	99414741	0.187000	0.23238	0.788000	0.31933	0.190000	0.23558	0.715000	0.25822	2.351000	0.79841	0.486000	0.48141	GCG		0.637	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
MTTP	4547	broad.mit.edu	37	4	100512428	100512428	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:100512428G>A	ENST00000265517.5	+	5	741	c.538G>A	c.(538-540)Gct>Act	p.A180T	MTTP_ENST00000511045.1_Missense_Mutation_p.A207T|MTTP_ENST00000457717.1_Missense_Mutation_p.A180T			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	180	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.A180T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GACCTACCAGGCTCATCAAGA	0.408																																					p.A180T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G538A	4						.						106.0	103.0	104.0					4																	100512428		2203	4300	6503	100731451	SO:0001583	missense	4547	exon6				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.538G>A	4.37:g.100512428G>A	ENSP00000265517:p.Ala180Thr		100731451	NM_000253	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746393	0.49257	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.39787	1.06;1.06;1.06	5.9	4.2	0.49525	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.254140	0.45361	D	0.000363	T	0.31888	0.0811	L	0.37561	1.115	0.30562	N	0.764426	B;B	0.16166	0.016;0.007	B;B	0.20767	0.031;0.009	T	0.24012	-1.0172	9	.	.	.	-14.3896	11.0278	0.47755	0.1455:0.0:0.8545:0.0	.	207;180	E9PBP6;P55157	.;MTP_HUMAN	T	207;180;180;180	ENSP00000427679:A207T;ENSP00000400821:A180T;ENSP00000265517:A180T	.	A	+	1	0	MTTP	100731451	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.895000	0.69814	0.857000	0.35407	-0.136000	0.14681	GCT		0.408	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		
MANBA	4126	broad.mit.edu	37	4	103644049	103644049	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:103644049G>A	ENST00000226578.4	-	4	627	c.528C>T	c.(526-528)tgC>tgT	p.C176C	MANBA_ENST00000505239.1_Intron	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	176					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.C176C(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AGTTGACATGGCATTCACCCT	0.498																																					p.C176C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C528T	4						.						132.0	119.0	123.0					4																	103644049		2203	4300	6503	103863095	SO:0001819	synonymous_variant	4126	exon4				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.528C>T	4.37:g.103644049G>A			103863095	NM_005908	Q96BC3|Q9NYX9	Silent	SNP	ENST00000226578.4	37	CCDS3658.1																																																																																				0.498	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2		
ANK2	287	broad.mit.edu	37	4	114275187	114275187	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:114275187C>T	ENST00000357077.4	+	38	5466	c.5413C>T	c.(5413-5415)Cca>Tca	p.P1805S	ANK2_ENST00000264366.6_Missense_Mutation_p.P1772S|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1805					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.P1805S(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)		CACCCACAGGCCACATCCAGC	0.532																																					p.P1805S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5413T	4						.						98.0	109.0	106.0					4																	114275187		2203	4300	6503	114494636	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.5413C>T	4.37:g.114275187C>T	ENSP00000349588:p.Pro1805Ser		114494636	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	c	6.809	0.518265	0.13005	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.65178	-0.14;-0.14	5.44	-7.86	0.01187	.	1.471000	0.04246	N	0.337827	T	0.34600	0.0903	N	0.08118	0	0.37069	D	0.898453	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09975	-1.0650	9	.	.	.	.	8.5765	0.33601	0.1273:0.5952:0.1964:0.0811	.	1772;1805	Q01484;Q01484-4	ANK2_HUMAN;.	S	1805;1772	ENSP00000349588:P1805S;ENSP00000264366:P1772S	.	P	+	1	0	ANK2	114494636	0.000000	0.05858	0.012000	0.15200	0.016000	0.09150	-0.765000	0.04730	-1.036000	0.03287	-0.994000	0.02522	CCA		0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANKRD50	57182	broad.mit.edu	37	4	125590911	125590911	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:125590911C>T	ENST00000504087.1	-	4	4558	c.3521G>A	c.(3520-3522)cGg>cAg	p.R1174Q	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R995Q	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1174	Ser-rich.							p.R1174Q(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						TGACTTCTGCCGGTCAACTGT	0.428																																					p.R995Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2984A	4						.						90.0	92.0	91.0					4																	125590911		2203	4298	6501	125810361	SO:0001583	missense	57182	exon3			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3521G>A	4.37:g.125590911C>T	ENSP00000425658:p.Arg1174Gln		125810361	NM_001167882	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500149	0.64298	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.69561	-0.4;-0.41	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.47507	0.1449	N	0.14661	0.345	0.44388	D	0.997293	P	0.47253	0.892	B	0.32677	0.15	T	0.54820	-0.8236	10	0.40728	T	0.16	.	19.1278	0.93393	0.0:1.0:0.0:0.0	.	1174	Q9ULJ7	ANR50_HUMAN	Q	1174;995	ENSP00000425658:R1174Q;ENSP00000425355:R995Q	ENSP00000425658:R1174Q	R	-	2	0	ANKRD50	125810361	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	5.461000	0.66699	2.756000	0.94617	0.561000	0.74099	CGG		0.428	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
SLC25A31	83447	broad.mit.edu	37	4	128651748	128651748	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:128651748C>T	ENST00000281154.4	+	1	216	c.48C>T	c.(46-48)gaC>gaT	p.D16D		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	16					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.D16D(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GGCTGTTTGACGCCTCATCCT	0.582																																					p.D16D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C48T	4						.						62.0	57.0	58.0					4																	128651748		2203	4300	6503	128871198	SO:0001819	synonymous_variant	83447	exon1			AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.48C>T	4.37:g.128651748C>T			128871198	NM_031291		Silent	SNP	ENST00000281154.4	37	CCDS3733.1																																																																																				0.582	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291	
MFSD8	256471	broad.mit.edu	37	4	128841858	128841858	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:128841858G>A	ENST00000296468.3	-	13	1611	c.1484C>T	c.(1483-1485)aCc>aTc	p.T495I	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.T450I	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	495					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.T495I(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GAGGGTGATGGTGAGCACTAT	0.478																																					p.T495I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1484T	4						.						97.0	92.0	93.0					4																	128841858		2203	4300	6503	129061308	SO:0001583	missense	256471	exon13			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.1484C>T	4.37:g.128841858G>A	ENSP00000296468:p.Thr495Ile		129061308	NM_152778	B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.587815	0.28268	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	T;T	0.80480	-1.38;-1.38	4.15	4.15	0.48705	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.341251	0.31210	N	0.008056	T	0.72526	0.3471	L	0.42686	1.345	0.80722	D	1	B	0.33583	0.418	B	0.29785	0.107	T	0.70568	-0.4836	10	0.19590	T	0.45	-0.8738	16.6403	0.85070	0.0:0.0:1.0:0.0	.	495	Q8NHS3	MFSD8_HUMAN	I	495;450	ENSP00000296468:T495I;ENSP00000425000:T450I	ENSP00000296468:T495I	T	-	2	0	MFSD8	129061308	1.000000	0.71417	0.802000	0.32245	0.463000	0.32649	5.738000	0.68613	2.151000	0.67156	0.561000	0.74099	ACC		0.478	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778	
UCP1	7350	broad.mit.edu	37	4	141483523	141483523	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:141483523G>A	ENST00000262999.3	-	5	708	c.633C>T	c.(631-633)gaC>gaT	p.D211D		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	211					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)	p.D211D(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					GGCAGGGGACGTCATCTAAAA	0.423																																					p.D211D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C633T	4						.						63.0	58.0	59.0					4																	141483523		2203	4300	6503	141702973	SO:0001819	synonymous_variant	7350	exon5			X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.633C>T	4.37:g.141483523G>A			141702973	NM_021833	Q13218|Q4KMZ3|Q68G66	Silent	SNP	ENST00000262999.3	37	CCDS3753.1																																																																																				0.423	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1		
TBC1D9	23158	broad.mit.edu	37	4	141543834	141543834	+	Missense_Mutation	SNP	C	C	T	rs545624117		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:141543834C>T	ENST00000442267.2	-	21	3390	c.3316G>A	c.(3316-3318)Gtg>Atg	p.V1106M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1106							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.V1106M(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GACTCCACCACGTAAGGCTGG	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17378	0.0		0.0	False		,,,				2504	0.0				p.V1106M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3316A	4						.						31.0	37.0	35.0					4																	141543834		2036	4160	6196	141763284	SO:0001583	missense	23158	exon21			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3316G>A	4.37:g.141543834C>T	ENSP00000411197:p.Val1106Met		141763284	NM_015130	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	2.597	-0.293834	0.05568	.	.	ENSG00000109436	ENST00000442267	T	0.45668	0.89	5.35	1.12	0.20585	.	.	.	.	.	T	0.25606	0.0623	N	0.22421	0.69	0.09310	N	1	B	0.28208	0.203	B	0.32465	0.146	T	0.27468	-1.0073	9	0.46703	T	0.11	.	1.5453	0.02563	0.1755:0.3203:0.3228:0.1814	.	1106	Q6ZT07	TBCD9_HUMAN	M	1106	ENSP00000411197:V1106M	ENSP00000411197:V1106M	V	-	1	0	TBC1D9	141763284	0.001000	0.12720	0.001000	0.08648	0.168000	0.22595	-0.058000	0.11750	0.235000	0.21160	-0.136000	0.14681	GTG		0.662	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130	
CC2D2A	57545	broad.mit.edu	37	4	15517559	15517559	+	Missense_Mutation	SNP	G	G	A	rs188018643	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:15517559G>A	ENST00000503292.1	+	11	1129	c.949G>A	c.(949-951)Ggg>Agg	p.G317R	CC2D2A_ENST00000413206.1_Missense_Mutation_p.G317R|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000389652.5_Missense_Mutation_p.G268R|CC2D2A_ENST00000424120.1_Missense_Mutation_p.G317R	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	317					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)		p.G268R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CCTTTACACCGGGGTAAGACC	0.458													G|||	2	0.000399361	0.0	0.0	5008	,	,		16764	0.002		0.0	False		,,,				2504	0.0				p.G317R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G949A	4						.						45.0	45.0	45.0					4																	15517559		1906	4111	6017	15126657	SO:0001583	missense	57545	exon11			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.949G>A	4.37:g.15517559G>A	ENSP00000421809:p.Gly317Arg		15126657	NM_001080522	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	CCDS47026.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	17.26	3.344994	0.61073	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	6.17	6.17	0.99709	.	0.054227	0.85682	D	0.000000	T	0.55065	0.1897	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.48031	-0.9070	10	0.45353	T	0.12	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	317;268	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	R	317;317;268;268;317;317;268	ENSP00000403465:G317R;ENSP00000398391:G317R;ENSP00000422875:G317R;ENSP00000421809:G317R;ENSP00000374303:G268R	ENSP00000374303:G268R	G	+	1	0	CC2D2A	15126657	1.000000	0.71417	0.264000	0.24511	0.031000	0.12232	8.051000	0.89446	2.941000	0.99782	0.655000	0.94253	GGG		0.458	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522	
OTUD4	54726	broad.mit.edu	37	4	146092862	146092862	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:146092862C>G	ENST00000447906.2	-	3	441	c.254G>C	c.(253-255)gGa>gCa	p.G85A	OTUD4_ENST00000296579.6_Missense_Mutation_p.G20A|OTUD4_ENST00000454497.2_Missense_Mutation_p.G20A|OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000509620.2_Missense_Mutation_p.G20A			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	85	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.G20A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TTCAAATGATCCTTCTATAAA	0.279																																					p.G20A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G59C	4						.						36.0	41.0	39.0					4																	146092862		2196	4284	6480	146312312	SO:0001583	missense	54726	exon3				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.254G>C	4.37:g.146092862C>G	ENSP00000395487:p.Gly85Ala		146312312	NM_001102653	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	C	25.5	4.640082	0.87760	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973;ENST00000509620;ENST00000296579;ENST00000504501	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.8	5.8	0.92144	Ovarian tumour, otubain (2);	0.000000	0.51477	D	0.000082	T	0.70736	0.3258	M	0.77820	2.39	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72472	-0.4283	10	0.62326	D	0.03	-16.0813	17.5525	0.87880	0.0:1.0:0.0:0.0	.	85;85	G3V0I6;Q01804	.;OTUD4_HUMAN	A	20;85;20;20;20;20	ENSP00000409279:G20A;ENSP00000395487:G85A;ENSP00000425972:G20A;ENSP00000424192:G20A;ENSP00000296579:G20A;ENSP00000423453:G20A	ENSP00000296579:G20A	G	-	2	0	OTUD4	146312312	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	5.597000	0.67577	2.741000	0.93983	0.650000	0.86243	GGA		0.279	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.R385C			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	FBXW7,large_intestine,NS,Substitution - Missense,+1	.	99	Substitution - Missense(98)|Unknown(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(1)	c.C1153T	4						.						260.0	223.0	235.0					4																	153249385		2203	4300	6503	153468835	SO:0001583	missense	55294	exon8			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.1393C>T	4.37:g.153249385G>A	ENSP00000281708:p.Arg465Cys		153468835	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909959	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67130	-0.5748	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	465;347;385;289	ENSP00000281708:R465C;ENSP00000296555:R347C;ENSP00000263981:R385C;ENSP00000377528:R289C	ENSP00000263981:R385C	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
LRAT	9227	broad.mit.edu	37	4	155670222	155670222	+	Silent	SNP	G	G	A	rs146717374	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:155670222G>A	ENST00000336356.3	+	3	880	c.627G>A	c.(625-627)acG>acA	p.T209T	LRAT_ENST00000507827.1_Silent_p.T209T	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	209					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)	p.T209T(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TAGTCTGTACGGGCTTGGTAT	0.408													G|||	32	0.00638978	0.0234	0.0014	5008	,	,		18395	0.0		0.0	False		,,,				2504	0.0				p.T209T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G627A	4						.	G		66,4340	61.1+/-98.1	0,66,2137	257.0	226.0	237.0		627	0.7	0.2	4	dbSNP_134	237	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRAT	NM_004744.3		0,67,6436	AA,AG,GG		0.0116,1.498,0.5151		209/231	155670222	67,12939	2203	4300	6503	155889672	SO:0001819	synonymous_variant	9227	exon3			AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.627G>A	4.37:g.155670222G>A			155889672	NM_004744	A8K983|Q8N716	Silent	SNP	ENST00000336356.3	37	CCDS3789.1																																																																																				0.408	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744	
TKTL2	84076	broad.mit.edu	37	4	164393142	164393142	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:164393142C>A	ENST00000280605.3	-	1	1905	c.1745G>T	c.(1744-1746)aGg>aTg	p.R582M		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	582						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.R582M(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATCAGGCTCCCTGGAGACAGC	0.502																																					p.R582M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1745T	4						.						97.0	85.0	89.0					4																	164393142		2203	4300	6503	164612592	SO:0001583	missense	84076	exon1			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1745G>T	4.37:g.164393142C>A	ENSP00000280605:p.Arg582Met		164612592	NM_032136	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	6.649	0.488227	0.12641	.	.	ENSG00000151005	ENST00000280605	D	0.91124	-2.79	5.06	3.32	0.38043	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.872164	0.10070	N	0.719840	T	0.80701	0.4673	N	0.11064	0.09	0.24248	N	0.995334	B	0.10296	0.003	B	0.15052	0.012	T	0.67055	-0.5767	10	0.30078	T	0.28	-0.1567	8.8681	0.35298	0.0:0.7654:0.1512:0.0835	.	582	Q9H0I9	TKTL2_HUMAN	M	582	ENSP00000280605:R582M	ENSP00000280605:R582M	R	-	2	0	TKTL2	164612592	0.000000	0.05858	0.575000	0.28536	0.700000	0.40528	0.718000	0.25866	0.830000	0.34757	-0.172000	0.13284	AGG		0.502	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136	
CBR4	84869	broad.mit.edu	37	4	169927953	169927953	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:169927953G>A	ENST00000306193.3	-	3	521	c.353C>T	c.(352-354)gCc>gTc	p.A118V	CBR4_ENST00000504480.1_Missense_Mutation_p.A118V|CBR4_ENST00000509108.1_5'Flank|RNY4P17_ENST00000364948.1_RNA	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	118					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)	p.A118V(1)		kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		AGTCCTCATGGCAGCTTTACA	0.378																																					p.A118V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C353T	4						.						178.0	178.0	178.0					4																	169927953		2203	4300	6503	170164528	SO:0001583	missense	84869	exon3			BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	25891	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 45C, member 1"""					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.353C>T	4.37:g.169927953G>A	ENSP00000303525:p.Ala118Val		170164528	NM_032783	Q8WTW8|Q96K93	Missense_Mutation	SNP	ENST00000306193.3	37	CCDS3812.1	.	.	.	.	.	.	.	.	.	.	G	8.796	0.931747	0.18131	.	.	ENSG00000145439	ENST00000306193;ENST00000504480;ENST00000504561	D;D;D	0.86956	-2.19;-2.19;-2.19	5.35	5.35	0.76521	NAD(P)-binding domain (1);	0.047823	0.85682	D	0.000000	T	0.80934	0.4719	N	0.22421	0.69	0.80722	D	1	B	0.30406	0.278	B	0.31390	0.129	T	0.76479	-0.2944	9	.	.	.	.	19.4162	0.94700	0.0:0.0:1.0:0.0	.	118	Q8N4T8	CBR4_HUMAN	V	118;118;115	ENSP00000303525:A118V;ENSP00000427615:A118V;ENSP00000423128:A115V	.	A	-	2	0	CBR4	170164528	1.000000	0.71417	0.969000	0.41365	0.432000	0.31715	8.580000	0.90784	2.658000	0.90341	0.650000	0.86243	GCC		0.378	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363441.2	NM_032783	
GALNTL6	442117	broad.mit.edu	37	4	173734792	173734792	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:173734792G>T	ENST00000506823.1	+	7	1498	c.841G>T	c.(841-843)Gga>Tga	p.G281*	GALNTL6_ENST00000508122.1_Nonsense_Mutation_p.G264*	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	281					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.G281*(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						TGCCATGCGAGGAGCCTTCGA	0.522																																					p.G281X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G841T	4						.						106.0	97.0	100.0					4																	173734792		2203	4300	6503	173971367	SO:0001587	stop_gained	442117	exon7				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.841G>T	4.37:g.173734792G>T	ENSP00000423313:p.Gly281*		173971367	NM_001034845	Q2L4S6	Nonsense_Mutation	SNP	ENST00000506823.1	37	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	G	37	6.223492	0.97390	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	.	.	.	5.97	5.14	0.70334	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.2089	0.73202	0.0672:0.0:0.9328:0.0	.	.	.	.	X	281;264	.	ENSP00000423313:G281X	G	+	1	0	GALNTL6	173971367	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	9.830000	0.99415	1.537000	0.49254	0.655000	0.94253	GGA		0.522	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845	
CCDC110	256309	broad.mit.edu	37	4	186382305	186382305	+	Silent	SNP	C	C	T	rs141194686	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:186382305C>T	ENST00000307588.3	-	5	321	c.246G>A	c.(244-246)tcG>tcA	p.S82S	CCDC110_ENST00000393540.3_Intron|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000510617.1_Silent_p.S82S	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	82						nucleus (GO:0005634)		p.S82S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CACTGATTTCCGACTGTACCT	0.289													C|||	3	0.000599042	0.0008	0.0	5008	,	,		16668	0.0		0.001	False		,,,				2504	0.001				p.S82S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G246A	4						.	C	,	1,4405	2.1+/-5.4	0,1,2202	90.0	89.0	89.0		,246	3.5	1.0	4	dbSNP_134	89	10,8582	7.1+/-27.0	0,10,4286	no	intron,coding-synonymous	CCDC110	NM_001145411.1,NM_152775.3	,	0,11,6488	TT,TC,CC		0.1164,0.0227,0.0846	,	,82/834	186382305	11,12987	2203	4296	6499	186619299	SO:0001819	synonymous_variant	256309	exon5			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.246G>A	4.37:g.186382305C>T			186619299	NM_152775	Q86YI9|Q8N7W0	Silent	SNP	ENST00000307588.3	37	CCDS3843.1																																																																																				0.289	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775	
ZNF595	152687	broad.mit.edu	37	4	87034	87034	+	3'UTR	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:87034G>A	ENST00000339368.6	+	0	1843							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GCCTTTACTCGGTCCACAGCC	0.393																																					p.G547S												.	.	0			c.G1639A	4						.						54.0	61.0	59.0					4																	87034		2073	4241	6314	77034	SO:0001624	3_prime_UTR_variant	152687	exon4			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1840G>A	4.37:g.87034G>A			77034	NM_182524		Missense_Mutation	SNP	ENST00000339368.6	37																																																																																					0.393	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2	NM_182524	
NELFA	7469	broad.mit.edu	37	4	1988081	1988081	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:1988081G>A	ENST00000411638.2	-	5	698	c.683C>T	c.(682-684)gCg>gTg	p.A228V	NELFA_ENST00000542778.1_Missense_Mutation_p.A93V|MIR943_ENST00000401286.1_RNA|NELFA_ENST00000382882.3_Missense_Mutation_p.A239V	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	228	HDAg-like.				gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A228V(1)									GACGCTGGGCGCCGTGGGGCT	0.682																																					p.A239V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C716T	4						.						24.0	27.0	26.0					4																	1988081		2192	4299	6491	1957879	SO:0001583	missense	7469	exon5			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.683C>T	4.37:g.1988081G>A	ENSP00000399165:p.Ala228Val		1957879	NM_005663	A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.03|15.03	2.710899|2.710899	0.48517|0.48517	.|.	.|.	ENSG00000185049|ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638;ENST00000431323;ENST00000455762|ENST00000453740	T;T;T;T;T;T|.	0.52754|.	0.65;0.65;0.65;0.65;0.65;0.65|.	4.76|4.76	3.89|3.89	0.44902|0.44902	.|.	0.330372|.	0.36591|.	N|.	0.002520|.	T|T	0.48960|0.48960	0.1529|0.1529	L|L	0.29908|0.29908	0.895|0.895	0.34954|0.34954	D|D	0.751505|0.751505	B|.	0.24483|.	0.104|.	B|.	0.21708|.	0.036|.	T|T	0.57376|0.57376	-0.7822|-0.7822	10|5	0.11485|.	T|.	0.65|.	-6.9287|-6.9287	14.9894|14.9894	0.71374|0.71374	0.0:0.1437:0.8562:0.0|0.0:0.1437:0.8562:0.0	.|.	228|.	Q9H3P2|.	NELFA_HUMAN|.	V|C	239;232;93;228;244;158|129	ENSP00000372335:A239V;ENSP00000387647:A232V;ENSP00000445757:A93V;ENSP00000399165:A228V;ENSP00000395761:A244V;ENSP00000410154:A158V|.	ENSP00000372335:A239V|.	A|R	-|-	2|1	0|0	WHSC2|WHSC2	1957879|1957879	0.990000|0.990000	0.36364|0.36364	0.132000|0.132000	0.22025|0.22025	0.831000|0.831000	0.47069|0.47069	5.035000|5.035000	0.64158|0.64158	1.087000|1.087000	0.41251|0.41251	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.682	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663	
SH3BP2	6452	broad.mit.edu	37	4	2826421	2826421	+	Silent	SNP	G	G	A	rs140178337		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:2826421G>A	ENST00000356331.5	+	4	582	c.321G>A	c.(319-321)acG>acA	p.T107T	SH3BP2_ENST00000442312.2_Silent_p.T135T|SH3BP2_ENST00000511747.1_Silent_p.T107T|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000503393.2_Silent_p.T164T|SH3BP2_ENST00000435136.2_Silent_p.T107T|SH3BP2_ENST00000452765.2_Silent_p.T107T	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	107	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)	p.T107T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AGCACCGCACGTGGTTCTTCT	0.637									Cherubism																												p.T164T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G492A	4						.	G	,,,	0,4406		0,0,2203	84.0	79.0	81.0		321,405,492,321	-9.7	0.7	4	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SH3BP2	NM_001122681.1,NM_001145855.1,NM_001145856.1,NM_003023.4	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	107/562,135/590,164/619,107/562	2826421	2,13004	2203	4300	6503	2796219	SO:0001819	synonymous_variant	6452	exon4	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.321G>A	4.37:g.2826421G>A			2796219	NM_001145856	A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Silent	SNP	ENST00000356331.5	37	CCDS33944.1																																																																																				0.637	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023	
CRMP1	1400	broad.mit.edu	37	4	5823521	5823521	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:5823521delG	ENST00000397890.2	-	14	1899	c.1685delC	c.(1684-1686)cctfs	p.P562fs	EVC_ENST00000382674.2_Intron|CRMP1_ENST00000324989.7_Frame_Shift_Del_p.P676fs|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Frame_Shift_Del_p.P560fs	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	562					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.P676fs*>11(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)		GCGGCCACCAGGGGGCGCCAC	0.592											OREG0016065	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P562fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1685delC	4						.						38.0	37.0	37.0					4																	5823521		2201	4300	6501	5874422	SO:0001589	frameshift_variant	1400	exon14			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.1685delC	4.37:g.5823521delG	ENSP00000380987:p.Pro562fs	629	5874422	NM_001313	A0EJG6|Q13024|Q4W5F1|Q96TC8	Frame_Shift_Del	DEL	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	8417629	8417629	+	Missense_Mutation	SNP	C	C	T	rs199723449		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:8417629C>T	ENST00000356406.5	-	3	319	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	ACOX3_ENST00000503233.1_Missense_Mutation_p.R81Q|ACOX3_ENST00000413009.2_Missense_Mutation_p.R81Q	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	81					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.R81Q(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CCGCTTGCATCGAAGGAAGTT	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18779	0.0		0.0	False		,,,				2504	0.0				p.R81Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G242A	4						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	87.0	80.0	83.0		242,242	5.4	0.3	4		83	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ACOX3	NM_001101667.1,NM_003501.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	81/625,81/701	8417629	1,13005	2203	4300	6503	8468529	SO:0001583	missense	8310	exon3			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.242G>A	4.37:g.8417629C>T	ENSP00000348775:p.Arg81Gln		8468529	NM_003501	Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010784	0.75046	0.0	1.16E-4	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.57595	0.39;0.39;0.39	5.39	5.39	0.77823	Acyl-CoA dehydrogenase/oxidase (1);	0.000000	0.85682	D	0.000000	T	0.53738	0.1815	M	0.62154	1.92	0.58432	D	0.999999	P;P	0.48640	0.913;0.858	B;B	0.43916	0.436;0.252	T	0.51164	-0.8740	10	0.15952	T	0.53	-30.946	17.9729	0.89118	0.0:1.0:0.0:0.0	.	81;81	O15254-2;O15254	.;ACOX3_HUMAN	Q	81	ENSP00000413994:R81Q;ENSP00000348775:R81Q;ENSP00000421625:R81Q	ENSP00000348775:R81Q	R	-	2	0	ACOX3	8468529	1.000000	0.71417	0.290000	0.24890	0.046000	0.14306	3.825000	0.55730	2.546000	0.85860	0.650000	0.86243	CGA		0.517	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4		
CPZ	8532	broad.mit.edu	37	4	8608581	8608581	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:8608581C>T	ENST00000360986.4	+	6	1198	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	CPZ_ENST00000315782.6_Missense_Mutation_p.R331C|CPZ_ENST00000382480.2_Missense_Mutation_p.R205C|CPZ_ENST00000429646.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	342					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R342C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCGCGGCGCACGCAGCGACCA	0.652																																					p.R331C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C991T	4						.						38.0	37.0	37.0					4																	8608581		2200	4300	6500	8659481	SO:0001583	missense	8532	exon5			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1024C>T	4.37:g.8608581C>T	ENSP00000354255:p.Arg342Cys		8659481	NM_003652	O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.093053	0.76756	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.03468	3.92;3.92;3.92	3.46	3.46	0.39613	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	U	0.000000	T	0.20659	0.0497	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.07520	-1.0768	10	0.52906	T	0.07	-40.844	15.1455	0.72647	0.0:1.0:0.0:0.0	.	331;342	Q66K79-2;Q66K79	.;CBPZ_HUMAN	C	342;205;331	ENSP00000354255:R342C;ENSP00000371920:R205C;ENSP00000315074:R331C	ENSP00000315074:R331C	R	+	1	0	CPZ	8659481	1.000000	0.71417	0.037000	0.18230	0.619000	0.37552	6.808000	0.75206	1.761000	0.52028	0.450000	0.29827	CGC		0.652	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652	
DRD5	1816	broad.mit.edu	37	4	9784146	9784146	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:9784146T>C	ENST00000304374.2	+	1	889	c.493T>C	c.(493-495)Tgg>Cgg	p.W165R		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	165					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.W165R(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CGGCCTGGCATGGACCTTGTC	0.627																																					p.W165R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T493C	4						.						37.0	36.0	36.0					4																	9784146		2203	4300	6503	9393244	SO:0001583	missense	1816	exon1			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.493T>C	4.37:g.9784146T>C	ENSP00000306129:p.Trp165Arg		9393244	NM_000798	B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	t	17.84	3.487452	0.63962	.	.	ENSG00000169676	ENST00000304374	D	0.88896	-2.44	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97167	0.9074	H	0.99847	4.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98128	1.0429	10	0.87932	D	0	.	13.2146	0.59851	0.0:0.0:0.0:1.0	.	165	P21918	DRD5_HUMAN	R	165	ENSP00000306129:W165R	ENSP00000306129:W165R	W	+	1	0	DRD5	9393244	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.493000	0.81493	1.906000	0.55180	0.254000	0.18369	TGG		0.627	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
GPR125	166647	broad.mit.edu	37	4	22444396	22444396	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:22444396G>A	ENST00000334304.5	-	7	1066	c.797C>T	c.(796-798)gCt>gTt	p.A266V	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.A266V|GPR125_ENST00000508133.1_Missense_Mutation_p.A40V	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	266	Ig-like.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.A266V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AATATATGAAGCCATGCACTG	0.428																																					p.A266V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C797T	4						.						60.0	58.0	59.0					4																	22444396		2202	4279	6481	22053494	SO:0001583	missense	166647	exon7			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.797C>T	4.37:g.22444396G>A	ENSP00000334952:p.Ala266Val		22053494	NM_145290	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	34	5.327214	0.95708	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482;ENST00000514129	T;T;T	0.58652	0.32;0.32;0.32	5.78	5.78	0.91487	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76521	0.3999	M	0.67397	2.05	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.996;0.895	D;D;D;P	0.91635	0.999;0.998;0.99;0.658	T	0.77397	-0.2603	10	0.87932	D	0	-24.2358	20.0027	0.97425	0.0:0.0:1.0:0.0	.	141;266;40;266	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	V	266;40;266;2	ENSP00000334952:A266V;ENSP00000422606:A40V;ENSP00000421006:A266V	ENSP00000334952:A266V	A	-	2	0	GPR125	22053494	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	9.414000	0.97362	2.733000	0.93635	0.655000	0.94253	GCT		0.428	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3		
KLHL5	51088	broad.mit.edu	37	4	39098493	39098493	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:39098493C>T	ENST00000504108.1	+	6	1716	c.1433C>T	c.(1432-1434)aCa>aTa	p.T478I	KLHL5_ENST00000381930.3_Missense_Mutation_p.T478I|KLHL5_ENST00000261426.5_Missense_Mutation_p.T417I|KLHL5_ENST00000261425.3_Missense_Mutation_p.T432I|KLHL5_ENST00000359687.2_Missense_Mutation_p.T478I|KLHL5_ENST00000508137.2_Missense_Mutation_p.T291I	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	478						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.T478R(1)|p.T478I(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGATTCAACAAAAGGTATC	0.378																																					p.T478I												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C1433T	4						.						75.0	69.0	71.0					4																	39098493		2203	4300	6503	38774888	SO:0001583	missense	51088	exon6			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.1433C>T	4.37:g.39098493C>T	ENSP00000423897:p.Thr478Ile		38774888	NM_015990	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039883	0.55003	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426;ENST00000546147	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.36	5.36	0.76844	Galactose oxidase, beta-propeller (1);	0.045781	0.85682	D	0.000000	T	0.67757	0.2927	L	0.46741	1.465	0.80722	D	1	P;P;P	0.43352	0.479;0.804;0.611	B;P;P	0.46419	0.219;0.516;0.511	T	0.62506	-0.6840	10	0.22706	T	0.39	.	19.4686	0.94952	0.0:1.0:0.0:0.0	.	417;478;478	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	I	512;432;291;478;478;478;417;72	ENSP00000261425:T432I;ENSP00000423080:T291I;ENSP00000423897:T478I;ENSP00000352716:T478I;ENSP00000371355:T478I;ENSP00000261426:T417I	ENSP00000261425:T432I	T	+	2	0	KLHL5	38774888	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	7.784000	0.85713	2.668000	0.90789	0.650000	0.86243	ACA		0.378	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1		
PHOX2B	8929	broad.mit.edu	37	4	41749524	41749524	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:41749524C>T	ENST00000226382.2	-	2	630	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	RP11-227F19.2_ENST00000510602.1_lincRNA|RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	91					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.G91S(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TCGTTGAGGCCGCCGTGGTCC	0.577			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.G91S		yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G271A	4						.						70.0	71.0	71.0					4																	41749524		2203	4300	6503	41444281	SO:0001583	missense	8929	exon2	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.271G>A	4.37:g.41749524C>T	ENSP00000226382:p.Gly91Ser		41444281	NM_003924	Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188181	0.57909	.	.	ENSG00000109132	ENST00000226382	D	0.90955	-2.76	5.4	5.4	0.78164	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93396	0.7894	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	P	0.56960	0.81	D	0.92722	0.6192	10	0.46703	T	0.11	.	19.366	0.94461	0.0:1.0:0.0:0.0	.	91	Q99453	PHX2B_HUMAN	S	91	ENSP00000226382:G91S	ENSP00000226382:G91S	G	-	1	0	PHOX2B	41444281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.245000	0.78237	2.797000	0.96272	0.655000	0.94253	GGC		0.577	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2		
FIP1L1	81608	broad.mit.edu	37	4	54308840	54308840	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:54308840G>A	ENST00000337488.6	+	14	1389	c.1195G>A	c.(1195-1197)Gct>Act	p.A399T	FIP1L1_ENST00000306932.6_Missense_Mutation_p.A325T|FIP1L1_ENST00000358575.5_Missense_Mutation_p.A393T|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	399	Pro-rich.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A399T(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCCACCAGGCGCTCCACCTCC	0.358			T	PDGFRA	idiopathic hypereosinophilic syndrome																																p.A399T			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1195A	4						.						116.0	114.0	114.0					4																	54308840		2203	4300	6503	54003597	SO:0001583	missense	81608	exon14			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1195G>A	4.37:g.54308840G>A	ENSP00000336752:p.Ala399Thr		54003597	NM_030917	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498056	0.64186	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000306932;ENST00000504094	T;T;T;T	0.47869	2.97;0.83;1.97;0.83	5.52	5.52	0.82312	.	0.081721	0.49916	D	0.000138	T	0.36331	0.0963	L	0.29908	0.895	0.80722	D	1	P;P;P;P	0.51240	0.943;0.715;0.902;0.905	B;B;B;B	0.37731	0.257;0.08;0.257;0.131	T	0.19778	-1.0295	10	0.38643	T	0.18	-28.5405	17.5668	0.87922	0.0:0.0:1.0:0.0	.	393;393;325;399	G3XAD6;B4DIR3;Q6UN15-3;Q6UN15	.;.;.;FIP1_HUMAN	T	399;393;325;56	ENSP00000336752:A399T;ENSP00000351383:A393T;ENSP00000302993:A325T;ENSP00000421691:A56T	ENSP00000302993:A325T	A	+	1	0	FIP1L1	54003597	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	5.907000	0.69908	2.755000	0.94549	0.591000	0.81541	GCT		0.358	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917	
KDR	3791	broad.mit.edu	37	4	55964922	55964922	+	Missense_Mutation	SNP	G	G	A	rs199982402		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:55964922G>A	ENST00000263923.4	-	16	2610	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	772				A -> T (in Ref. 7; AAA59459/CAA43837). {ECO:0000305}.	angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A772V(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGCAATCACCGCCGTGCCTAC	0.418			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																											p.A772V			Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2315T	4						.						114.0	114.0	114.0					4																	55964922		2203	4300	6503	55659679	SO:0001583	missense	3791	exon16			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2315C>T	4.37:g.55964922G>A	ENSP00000263923:p.Ala772Val		55659679	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	7.367	0.626070	0.14257	.	.	ENSG00000128052	ENST00000263923	T	0.77229	-1.08	5.97	5.97	0.96955	.	0.116782	0.64402	D	0.000018	T	0.48978	0.1530	N	0.04508	-0.205	0.44880	D	0.99789	P	0.41313	0.745	B	0.26310	0.068	T	0.62487	-0.6844	10	0.05959	T	0.93	.	15.841	0.78845	0.0:0.135:0.8649:0.0	.	772	P35968	VGFR2_HUMAN	V	772	ENSP00000263923:A772V	ENSP00000263923:A772V	A	-	2	0	KDR	55659679	0.999000	0.42202	0.235000	0.24058	0.063000	0.16089	3.413000	0.52686	2.831000	0.97527	0.655000	0.94253	GCG		0.418	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
EPHA5	2044	broad.mit.edu	37	4	66361110	66361110	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:66361110G>A	ENST00000273854.3	-	4	1662	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C	EPHA5_ENST00000354839.4_Silent_p.C354C|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Silent_p.C354C	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	354	Cys-rich.				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.C354C(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						CCTTACTTGTGCATGCCATTG	0.438										TSP Lung(17;0.13)																											p.C354C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1062T	4						.						159.0	156.0	157.0					4																	66361110		2203	4300	6503	66043705	SO:0001819	synonymous_variant	2044	exon4			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.1062C>T	4.37:g.66361110G>A			66043705	NM_004439	Q7Z3F2	Silent	SNP	ENST00000273854.3	37	CCDS3513.1																																																																																				0.438	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
GK2	2712	broad.mit.edu	37	4	80329149	80329149	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:80329149G>A	ENST00000358842.3	-	1	223	c.206C>T	c.(205-207)gCg>gTg	p.A69V		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	226					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.A69V(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACACGTTCTCGCTATACACTC	0.408																																					p.A69V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C206T	4						.						179.0	176.0	177.0					4																	80329149		2203	4300	6503	80548173	SO:0001583	missense	2712	exon1			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.206C>T	4.37:g.80329149G>A	ENSP00000351706:p.Ala69Val		80548173	NM_033214	Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	4.561	0.104146	0.08731	.	.	ENSG00000196475	ENST00000358842	T	0.48836	0.8	3.92	-0.592	0.11671	Carbohydrate kinase, FGGY, N-terminal (1);	0.219686	0.45867	D	0.000337	T	0.31009	0.0783	N	0.20357	0.565	0.28350	N	0.920962	P	0.39060	0.657	B	0.38500	0.275	T	0.25117	-1.0141	10	0.39692	T	0.17	-4.2477	13.4607	0.61225	0.0:0.0:0.1806:0.8193	.	69	Q14410	GLPK2_HUMAN	V	69	ENSP00000351706:A69V	ENSP00000351706:A69V	A	-	2	0	GK2	80548173	0.971000	0.33674	0.092000	0.20876	0.015000	0.08874	0.786000	0.26844	-0.116000	0.11893	-1.350000	0.01237	GCG		0.408	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214	
ANTXR2	118429	broad.mit.edu	37	4	80992751	80992751	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:80992751C>T	ENST00000307333.7	-	2	212	c.210G>A	c.(208-210)gcG>gcA	p.A70A	ANTXR2_ENST00000403729.2_Silent_p.A70A|ANTXR2_ENST00000404191.1_5'UTR|ANTXR2_ENST00000295465.4_Silent_p.A70A|ANTXR2_ENST00000346652.6_Silent_p.A70A	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	70	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.A70A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CAAATCTCTCCGCAAGTTGCT	0.363									Juvenile Hyaline Fibromatosis																												p.A70A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G210A	4						.						89.0	88.0	89.0					4																	80992751		1828	4092	5920	81211775	SO:0001819	synonymous_variant	118429	exon2	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.210G>A	4.37:g.80992751C>T			81211775	NM_001145794	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Silent	SNP	ENST00000307333.7	37	CCDS47086.1																																																																																				0.363	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172	
FGF5	2250	broad.mit.edu	37	4	81188243	81188243	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:81188243G>A	ENST00000312465.7	+	1	491	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	FGF5_ENST00000456523.3_Missense_Mutation_p.G89S	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	89					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)	p.G89S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GCGCCGGACCGGCAGCCTCTA	0.577																																					p.G89S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G265A	4						.						46.0	54.0	51.0					4																	81188243		2201	4293	6494	81407267	SO:0001583	missense	2250	exon1			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.265G>A	4.37:g.81188243G>A	ENSP00000311697:p.Gly89Ser		81407267	NM_033143	B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630205	0.87660	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	T;T	0.81247	-0.2;-1.47	5.41	5.41	0.78517	.	0.052247	0.85682	D	0.000000	D	0.85669	0.5750	L	0.41710	1.295	0.58432	D	0.999998	D;D	0.89917	1.0;0.993	D;P	0.83275	0.996;0.773	T	0.81961	-0.0693	10	0.25751	T	0.34	.	19.0018	0.92837	0.0:0.0:1.0:0.0	.	89;89	P12034-2;P12034	.;FGF5_HUMAN	S	89	ENSP00000311697:G89S;ENSP00000398353:G89S	ENSP00000311697:G89S	G	+	1	0	FGF5	81407267	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.456000	0.73501	2.816000	0.96949	0.561000	0.74099	GGC		0.577	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2		
AFF1	4299	broad.mit.edu	37	4	88036412	88036412	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:88036412G>T	ENST00000307808.6	+	11	2826	c.2406G>T	c.(2404-2406)agG>agT	p.R802S	AFF1_ENST00000395146.4_Missense_Mutation_p.R809S|AFF1_ENST00000544085.1_Missense_Mutation_p.R440S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	802					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R809S(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)		CTGAGAAGAGGAGCTCAGACA	0.592																																					p.R809S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2427T	4						.						34.0	41.0	38.0					4																	88036412		2201	4299	6500	88255436	SO:0001583	missense	4299	exon12			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.2406G>T	4.37:g.88036412G>T	ENSP00000305689:p.Arg802Ser		88255436	NM_001166693	B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406304	0.25378	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.63096	-0.02;-0.02;-0.02	5.93	-2.55	0.06288	.	0.370825	0.29342	N	0.012422	T	0.49236	0.1545	M	0.62723	1.935	0.09310	N	1	B;B;B	0.30763	0.294;0.19;0.19	B;B;B	0.29942	0.109;0.109;0.109	T	0.41502	-0.9505	10	0.19590	T	0.45	-5.5249	7.9685	0.30113	0.4818:0.114:0.4042:0.0	.	809;802;802	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	S	809;461;802;440	ENSP00000378578:R809S;ENSP00000305689:R802S;ENSP00000440843:R440S	ENSP00000305689:R802S	R	+	3	2	AFF1	88255436	0.000000	0.05858	0.002000	0.10522	0.091000	0.18340	0.030000	0.13688	-0.673000	0.05259	-0.218000	0.12543	AGG		0.592	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935	
HERC6	55008	broad.mit.edu	37	4	89334236	89334236	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:89334236C>T	ENST00000264346.7	+	12	1435	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	HERC6_ENST00000380265.5_Missense_Mutation_p.T459M	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	459					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.T459M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAGATAACTACGTGTCTCGAG	0.443																																					p.R459C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1375T	4						.						215.0	206.0	209.0					4																	89334236		1920	4150	6070	89553259	SO:0001583	missense	55008	exon12			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.1376C>T	4.37:g.89334236C>T	ENSP00000264346:p.Thr459Met		89553259	NM_017912	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	De_novo_Start_OutOfFrame	SNP	ENST00000264346.7	37	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474851	0.26511	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.39997	1.05;1.08	4.76	-1.71	0.08133	.	1.440270	0.04266	N	0.341279	T	0.51991	0.1707	M	0.66939	2.045	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.732	T	0.39921	-0.9590	10	0.54805	T	0.06	.	1.1796	0.01842	0.3773:0.2162:0.2472:0.1593	.	459;459	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	M	459	ENSP00000369617:T459M;ENSP00000264346:T459M	ENSP00000264346:T459M	T	+	2	0	HERC6	89553259	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.630000	0.05502	-0.683000	0.05190	-0.302000	0.09304	ACG		0.443	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2		
TRIML2	205860	broad.mit.edu	37	4	189020189	189020189	+	Splice_Site	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr4:189020189C>A	ENST00000512729.1	-	4	845	c.471G>T	c.(469-471)aaG>aaT	p.K157N	TRIML2_ENST00000326754.3_Splice_Site_p.K157N|TRIML2_ENST00000536972.1_Missense_Mutation_p.K207N	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	157					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.K157N(2)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGCATCTTACCTTGAGCAATG	0.453																																					p.K157N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G471T	4						.						73.0	69.0	70.0					4																	189020189		2203	4300	6503	189257183	SO:0001630	splice_region_variant	205860	exon4			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.471+1G>T	4.37:g.189020189C>A			189257183	NM_173553	B7Z6J6	De_novo_Start_OutOfFrame	SNP	ENST00000512729.1	37	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382954	0.25031	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.58797	3.53;0.31;3.73	4.56	3.71	0.42584	.	0.974842	0.08369	N	0.956422	T	0.45418	0.1341	L	0.27053	0.805	0.28562	N	0.911094	P;P;B	0.35328	0.48;0.495;0.276	B;B;B	0.31614	0.133;0.09;0.062	T	0.43734	-0.9373	10	0.87932	D	0	.	10.8458	0.46743	0.0:0.8094:0.1906:0.0	.	207;157;157	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	N	157;157;207	ENSP00000422581:K157N;ENSP00000317498:K157N;ENSP00000441236:K207N	ENSP00000317498:K157N	K	-	3	2	TRIML2	189257183	1.000000	0.71417	0.997000	0.53966	0.268000	0.26511	0.685000	0.25378	1.262000	0.44165	0.650000	0.86243	AAG		0.453	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553	Missense_Mutation
CLCN4	1183	broad.mit.edu	37	X	10188908	10188908	+	Missense_Mutation	SNP	C	C	T	rs483352716		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:10188908C>T	ENST00000380833.4	+	12	2574	c.2183C>T	c.(2182-2184)aCg>aTg	p.T728M	CLCN4_ENST00000380829.1_Missense_Mutation_p.T697M|CLCN4_ENST00000421085.2_Missense_Mutation_p.T634M	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	728	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.T728M(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCCTGGTGACGCGGAGCGGG	0.572																																					p.T728M	Melanoma(74;1050 1296 1576 30544 38374)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2183T	X						.						82.0	69.0	74.0					X																	10188908		2203	4300	6503	10148908	SO:0001583	missense	1183	exon12			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.2183C>T	X.37:g.10188908C>T	ENSP00000370213:p.Thr728Met		10148908	NM_001830	A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	c	26.3	4.722808	0.89298	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94457	-3.43;-3.43;-3.43	5.36	5.36	0.76844	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.95996	0.8696	L	0.52823	1.66	0.80722	D	1	D	0.59357	0.985	P	0.60886	0.88	D	0.96231	0.9168	10	0.59425	D	0.04	-26.3598	18.267	0.90055	0.0:1.0:0.0:0.0	.	728	P51793	CLCN4_HUMAN	M	728;697;634	ENSP00000370213:T728M;ENSP00000370209:T697M;ENSP00000405754:T634M	ENSP00000370209:T697M	T	+	2	0	CLCN4	10148908	1.000000	0.71417	0.884000	0.34674	0.973000	0.67179	7.649000	0.83500	2.253000	0.74438	0.591000	0.81541	ACG		0.572	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1		
NXF5	55998	broad.mit.edu	37	X	101096514	101096514	+	Missense_Mutation	SNP	C	C	T	rs192990689		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:101096514C>T	ENST00000361708.2	-	6	616	c.257G>A	c.(256-258)aGt>aAt	p.S86N	NXF5_ENST00000473265.2_Missense_Mutation_p.S86N|NXF5_ENST00000537026.1_Missense_Mutation_p.S86N			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	86	RRM.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S86N(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						AGTAAAATGACTGACAAATAT	0.473													T|||	1	0.000264901	0.0008	0.0	3775	,	,		14878	0.0		0.0	False		,,,				2504	0.0				p.S86N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G257A	X						.						171.0	136.0	148.0					X																	101096514		2203	4300	6503	100983170	SO:0001583	missense	55998	exon6			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.257G>A	X.37:g.101096514C>T	ENSP00000355286:p.Ser86Asn		100983170	NM_032946	A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37		4	0.0024110910186859553	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	2	0.002638522427440633	.	0.005	-2.126138	0.00342	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.41400	1.0;1.0;1.0	2.18	-2.76	0.05896	.	0.467752	0.22608	N	0.057870	T	0.09335	0.0230	N	0.00599	-1.345	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.24728	-1.0152	10	0.02654	T	1	.	9.9481	0.41623	0.0:0.7303:0.0:0.2697	.	86	A2RRM0	.	N	86	ENSP00000442401:S86N;ENSP00000426978:S86N;ENSP00000355286:S86N	ENSP00000263032:S86N	S	-	2	0	NXF5	100983170	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-1.307000	0.02733	-1.505000	0.01807	-0.948000	0.02665	AGT		0.473	NXF5-201	KNOWN	basic	protein_coding	protein_coding			
TEX13A	56157	broad.mit.edu	37	X	104464718	104464718	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:104464718G>A	ENST00000413579.1	-	2	475	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	TEX13A_ENST00000372575.1_Missense_Mutation_p.R122C|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.R122C|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	122							zinc ion binding (GO:0008270)	p.R122C(1)		large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCCTCCTTGCGTTCCGTCTCC	0.607																																					p.R122C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C364T	X						.						35.0	36.0	36.0					X																	104464718		2157	4228	6385	104351374	SO:0001583	missense	56157	exon2			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.364C>T	X.37:g.104464718G>A	ENSP00000399753:p.Arg122Cys		104351374	NM_031274	B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37		.	.	.	.	.	.	.	.	.	.	G	5.108	0.205570	0.09704	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.84	-1.11	0.09840	.	0.676215	0.11195	N	0.589443	T	0.24774	0.0601	.	.	.	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.18147	-1.0346	8	0.49607	T	0.09	.	2.6694	0.05063	0.4195:0.0:0.3649:0.2156	.	122;122	C9JWK0;Q9BXU3	.;TX13A_HUMAN	C	122	.	ENSP00000361656:R122C	R	-	1	0	TEX13A	104351374	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.439000	0.06897	-0.445000	0.07159	-1.421000	0.01109	CGC		0.607	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274	
FRMPD4	9758	broad.mit.edu	37	X	12734435	12734435	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:12734435G>T	ENST00000380682.1	+	15	2363	c.1857G>T	c.(1855-1857)gaG>gaT	p.E619D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	619					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.E619D(1)|p.E609D(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCCCCTGTGAGGCAGACTACA	0.532																																					p.E619D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1857T	X						.						79.0	79.0	79.0					X																	12734435		2203	4300	6503	12644356	SO:0001583	missense	9758	exon15			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.1857G>T	X.37:g.12734435G>T	ENSP00000370057:p.Glu619Asp		12644356	NM_014728	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688396	0.29962	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.22743	1.94	5.86	2.14	0.27477	.	0.401550	0.28470	N	0.015224	T	0.15825	0.0381	L	0.54323	1.7	0.09310	N	1	B;B	0.31026	0.004;0.304	B;B	0.23574	0.004;0.047	T	0.14839	-1.0458	10	0.27785	T	0.31	.	7.0236	0.24928	0.5507:0.0:0.4493:0.0	.	611;619	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	D	619;610;608	ENSP00000370057:E619D	ENSP00000304583:E608D	E	+	3	2	FRMPD4	12644356	1.000000	0.71417	0.880000	0.34516	0.868000	0.49771	1.625000	0.37029	0.634000	0.30469	0.600000	0.82982	GAG		0.532	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
CHRDL1	91851	broad.mit.edu	37	X	109964647	109964647	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:109964647C>T	ENST00000372045.1	-	5	523	c.392G>A	c.(391-393)cGg>cAg	p.R131Q	CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000218054.4_Missense_Mutation_p.R137Q|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R138Q|CHRDL1_ENST00000444321.2_Missense_Mutation_p.R137Q|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R137Q			Q9BU40	CRDL1_HUMAN	chordin-like 1	131	VWFC 2. {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.R137Q(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ATTGGGTTGCCGATTCTGAAA	0.488																																					p.R138Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G413A	X						.						379.0	305.0	330.0					X																	109964647		2203	4300	6503	109851303	SO:0001583	missense	91851	exon5			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.392G>A	X.37:g.109964647C>T	ENSP00000361115:p.Arg131Gln		109851303	NM_001143981	B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37		.	.	.	.	.	.	.	.	.	.	C	26.3	4.727441	0.89390	.	.	ENSG00000101938	ENST00000372045;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000444321	T;T;T;T;T	0.19105	2.19;2.17;2.17;2.4;2.17	4.93	4.93	0.64822	von Willebrand factor, type C (3);	0.118609	0.56097	D	0.000036	T	0.41743	0.1172	L	0.57536	1.79	0.52099	D	0.999943	D;D;D;D;D	0.71674	0.997;0.998;0.997;0.997;0.998	D;D;D;D;D	0.76575	0.968;0.979;0.968;0.968;0.988	T	0.11616	-1.0580	9	.	.	.	-9.7761	14.7269	0.69351	0.0:1.0:0.0:0.0	.	137;132;117;131;138	E9PGS5;Q9BU40-2;Q59FB2;Q9BU40;D3DUY6	.;.;.;CRDL1_HUMAN;.	Q	131;137;137;138;137	ENSP00000361115:R131Q;ENSP00000218054:R137Q;ENSP00000378276:R137Q;ENSP00000361112:R138Q;ENSP00000399739:R137Q	.	R	-	2	0	CHRDL1	109851303	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.932000	0.63476	2.384000	0.81235	0.529000	0.55759	CGG		0.488	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234	
SAGE1	55511	broad.mit.edu	37	X	134989980	134989980	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:134989980C>T	ENST00000370709.3	+	9	1139	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V	SAGE1_ENST00000535938.1_Missense_Mutation_p.A380V|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Missense_Mutation_p.A380V			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	380						nucleus (GO:0005634)		p.A380V(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)					GATATGCCAGCCATGAGTACC	0.443																																					p.A380V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1139T	X						.						185.0	153.0	164.0					X																	134989980		2203	4299	6502	134817646	SO:0001583	missense	55511	exon10			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.1139C>T	X.37:g.134989980C>T	ENSP00000359743:p.Ala380Val		134817646	NM_018666	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	7.464	0.645351	0.14451	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.36878	1.23;1.23;1.23	0.67	-1.34	0.09143	.	0.137375	0.49305	U	0.000158	T	0.30916	0.0780	N	0.24115	0.695	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.41963	-0.9479	9	0.14656	T	0.56	.	.	.	.	.	380	Q9NXZ1	SAGE1_HUMAN	V	380	ENSP00000323191:A380V;ENSP00000445959:A380V;ENSP00000359743:A380V	ENSP00000323191:A380V	A	+	2	0	SAGE1	134817646	0.002000	0.14202	0.002000	0.10522	0.007000	0.05969	-0.677000	0.05215	-2.098000	0.00850	-1.468000	0.01013	GCC		0.443	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	
GLRA2	2742	broad.mit.edu	37	X	14625262	14625262	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:14625262C>T	ENST00000218075.4	+	6	1117	c.587C>T	c.(586-588)aCg>aTg	p.T196M	GLRA2_ENST00000355020.4_Missense_Mutation_p.T196M|GLRA2_ENST00000443437.2_Missense_Mutation_p.T107M	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	196					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.T196M(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	GTTGGGTACACGATGAATGAC	0.383																																					p.T196M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C587T	X						.						144.0	131.0	136.0					X																	14625262		2203	4300	6503	14535183	SO:0001583	missense	2742	exon7				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.587C>T	X.37:g.14625262C>T	ENSP00000218075:p.Thr196Met		14535183	NM_001118885	A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918089	0.92249	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020;ENST00000415367	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.58	5.58	0.84498	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.91529	0.7325	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.994	D	0.93462	0.6811	10	0.87932	D	0	.	18.7972	0.91999	0.0:1.0:0.0:0.0	.	180;196;196	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	M	107;196;196;180	ENSP00000387756:T107M;ENSP00000218075:T196M;ENSP00000347123:T196M;ENSP00000391606:T180M	ENSP00000218075:T196M	T	+	2	0	GLRA2	14535183	1.000000	0.71417	0.921000	0.36526	0.994000	0.84299	7.701000	0.84566	2.471000	0.83476	0.600000	0.82982	ACG		0.383	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1		
FANCB	2187	broad.mit.edu	37	X	14882750	14882750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:14882750C>A	ENST00000324138.3	-	2	1036	c.883G>T	c.(883-885)Gga>Tga	p.G295*	FANCB_ENST00000398334.1_Nonsense_Mutation_p.G295*	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	295					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)		p.G295*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAGAGGTTTCCTCCACCTGAA	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.G295X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G883T	X						.						100.0	88.0	92.0					X																	14882750		2203	4300	6503	14792671	SO:0001587	stop_gained	2187	exon3	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.883G>T	X.37:g.14882750C>A	ENSP00000326819:p.Gly295*		14792671	NM_001018113	B2RMZ4|Q7Z2U2|Q86XG1	Nonsense_Mutation	SNP	ENST00000324138.3	37	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544977	0.96488	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.43	4.33	0.51752	.	0.850064	0.10678	N	0.646674	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-0.4179	9.1198	0.36780	0.0:0.7696:0.0:0.2304	.	.	.	.	X	295	.	ENSP00000326819:G295X	G	-	1	0	FANCB	14792671	0.005000	0.15991	0.001000	0.08648	0.962000	0.63368	1.025000	0.30090	0.903000	0.36546	0.513000	0.50165	GGA		0.368	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633	
MAP7D3	79649	broad.mit.edu	37	X	135314331	135314331	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:135314331C>T	ENST00000316077.9	-	8	1005	c.785G>A	c.(784-786)cGt>cAt	p.R262H	MAP7D3_ENST00000370663.5_Missense_Mutation_p.R244H|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R227H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	262					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R559H(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)					AGTACATTTACGCAAGGGTAC	0.403																																					p.R227H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G680A	X						.						143.0	129.0	134.0					X																	135314331		1933	4130	6063	135141997	SO:0001583	missense	79649	exon7			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.785G>A	X.37:g.135314331C>T	ENSP00000318086:p.Arg262His		135141997	NM_001173517	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	9.793	1.178484	0.21787	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663	T;T;T	0.64991	2.25;-0.13;-0.13	5.42	-4.02	0.04034	.	1.846280	0.03330	N	0.193170	T	0.38081	0.1027	L	0.27053	0.805	0.09310	N	1	B;B;P	0.38078	0.179;0.179;0.617	B;B;B	0.26614	0.021;0.032;0.071	T	0.19877	-1.0292	10	0.46703	T	0.11	0.0912	1.2926	0.02063	0.3852:0.2695:0.0917:0.2536	.	244;262;227	B4DWD2;Q8IWC1;Q8IWC1-3	.;MA7D3_HUMAN;.	H	227;262;244	ENSP00000359695:R227H;ENSP00000318086:R262H;ENSP00000359697:R244H	ENSP00000318086:R262H	R	-	2	0	MAP7D3	135141997	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.339000	0.07832	-1.409000	0.02038	-0.302000	0.09304	CGT		0.403	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2		
MAMLD1	10046	broad.mit.edu	37	X	149638772	149638772	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:149638772G>A	ENST00000370401.2	+	4	1237	c.927G>A	c.(925-927)gcG>gcA	p.A309A	MAMLD1_ENST00000432680.2_Silent_p.A284A|MAMLD1_ENST00000426613.2_Silent_p.A284A|MAMLD1_ENST00000262858.5_Silent_p.A309A|MAMLD1_ENST00000455522.2_5'Flank			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	309					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A236A(1)|p.A309A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGAAGGCGTTGGCAGCCA	0.632																																					p.A284A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G852A	X						.						80.0	57.0	65.0					X																	149638772		2203	4300	6503	149389430	SO:0001819	synonymous_variant	10046	exon2			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.927G>A	X.37:g.149638772G>A			149389430	NM_001177466	B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	CCDS14693.2																																																																																				0.632	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491	
MAGEA12	4111	broad.mit.edu	37	X	151900015	151900015	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:151900015G>A	ENST00000357916.4	-	2	941	c.786C>T	c.(784-786)ccC>ccT	p.P262P	MAGEA12_ENST00000393869.3_Silent_p.P262P|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393900.3_Silent_p.P262P	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	262	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.P262P(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GATCACTGCCGGGGACCTGCC	0.552																																					p.P262P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C786T	X						.						134.0	132.0	133.0					X																	151900015		2203	4300	6503	151650671	SO:0001819	synonymous_variant	4111	exon2				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.786C>T	X.37:g.151900015G>A			151650671	NM_005367	Q9NSD3	Silent	SNP	ENST00000357916.4	37	CCDS14710.1																																																																																				0.552	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367	
MXRA5	25878	broad.mit.edu	37	X	3235154	3235154	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:3235154C>T	ENST00000217939.6	-	6	6722	c.6568G>A	c.(6568-6570)Gcg>Acg	p.A2190T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2190	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)		p.A2190T(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)				CTGAAGAGCGCGTCGATCATC	0.602																																					p.A2190T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6568A	X						.						15.0	15.0	15.0					X																	3235154		2183	4279	6462	3245154	SO:0001583	missense	25878	exon6			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6568G>A	X.37:g.3235154C>T	ENSP00000217939:p.Ala2190Thr		3245154	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414630	0.25465	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.78246	-1.16	3.34	-2.35	0.06684	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.606082	0.12367	U	0.475123	T	0.60856	0.2301	N	0.16266	0.395	0.36331	D	0.858861	D	0.54964	0.969	P	0.47827	0.558	T	0.60722	-0.7207	10	0.29301	T	0.29	.	4.9572	0.14048	0.5633:0.1982:0.0:0.2385	.	2190	Q9NR99	MXRA5_HUMAN	T	2190	ENSP00000217939:A2190T	ENSP00000217939:A2190T	A	-	1	0	MXRA5	3245154	1.000000	0.71417	0.020000	0.16555	0.001000	0.01503	0.759000	0.26461	-0.441000	0.07201	-0.865000	0.03005	GCG		0.602	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MXRA5	25878	broad.mit.edu	37	X	3235540	3235540	+	Missense_Mutation	SNP	G	G	A	rs200199741		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:3235540G>A	ENST00000217939.6	-	6	6336	c.6182C>T	c.(6181-6183)cCg>cTg	p.P2061L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2061	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)		p.P2061L(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)				GCTGAGCCCCGGGGGCAGCGA	0.682													G|||	0	0.0	0.0	0.0	3775	,	,		12631	0.0		0.0	False		,,,				2504	0.0				p.P2061L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6182T	X						.						26.0	22.0	23.0					X																	3235540		2188	4276	6464	3245540	SO:0001583	missense	25878	exon6			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6182C>T	X.37:g.3235540G>A	ENSP00000217939:p.Pro2061Leu		3245540	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	1.979	-0.434624	0.04669	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.65916	-0.18	3.63	3.63	0.41609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36703	U	0.002442	T	0.36082	0.0954	N	0.12569	0.235	0.09310	N	1	P	0.50369	0.934	B	0.42522	0.39	T	0.13176	-1.0519	10	0.19590	T	0.45	.	3.0866	0.06279	0.1964:0.0:0.5547:0.2489	.	2061	Q9NR99	MXRA5_HUMAN	L	2061	ENSP00000217939:P2061L	ENSP00000217939:P2061L	P	-	2	0	MXRA5	3245540	0.462000	0.25791	0.189000	0.23252	0.031000	0.12232	2.420000	0.44679	1.440000	0.47531	0.597000	0.82753	CCG		0.682	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MXRA5	25878	broad.mit.edu	37	X	3241421	3241421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:3241421G>A	ENST00000217939.6	-	5	2459	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	769						extracellular vesicular exosome (GO:0070062)		p.R769*(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)				TTTATCCTTCGTCTAGATTCA	0.453																																					p.R769X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2305T	X						.						122.0	108.0	112.0					X																	3241421		2203	4300	6503	3251421	SO:0001587	stop_gained	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.2305C>T	X.37:g.3241421G>A	ENSP00000217939:p.Arg769*		3251421	NM_015419	Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	36	5.678698	0.96764	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.63	1.38	0.22167	.	0.000000	0.34828	U	0.003645	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6057	0.45392	0.0:0.0:0.4626:0.5373	.	.	.	.	X	769	.	ENSP00000217939:R769X	R	-	1	2	MXRA5	3251421	0.948000	0.32251	0.004000	0.12327	0.255000	0.26057	1.538000	0.36094	0.397000	0.25310	0.529000	0.55759	CGA		0.453	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
NHS	4810	broad.mit.edu	37	X	17745016	17745016	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:17745016G>A	ENST00000380060.3	+	6	3065	c.2727G>A	c.(2725-2727)tcG>tcA	p.S909S	NHS_ENST00000398097.3_Silent_p.S753S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	930					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.S909S(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TAGATGCTTCGGATATTCCAC	0.433																																					p.S753S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2259A	X						.						166.0	156.0	159.0					X																	17745016		2203	4300	6503	17654937	SO:0001819	synonymous_variant	4810	exon7				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2727G>A	X.37:g.17745016G>A			17654937	NM_001136024	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	CCDS14181.1																																																																																				0.433	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270	
ZNF645	158506	broad.mit.edu	37	X	22291957	22291957	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:22291957G>A	ENST00000323684.1	+	1	893	c.849G>A	c.(847-849)gcG>gcA	p.A283A		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	283	Pro-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A283A(3)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AGCATTATGCGCCACCTCCAT	0.473																																					p.A283A												.	.	3	Substitution - coding silent(3)	large_intestine(2)|urinary_tract(1)	c.G849A	X						.						150.0	116.0	127.0					X																	22291957		2203	4300	6503	22201878	SO:0001819	synonymous_variant	158506	exon1			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.849G>A	X.37:g.22291957G>A			22201878	NM_152577	A0AV29|A0AV31|E3SBK4|Q6DJY9	Silent	SNP	ENST00000323684.1	37	CCDS14205.1																																																																																				0.473	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577	
CASK	8573	broad.mit.edu	37	X	41428984	41428984	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:41428984delT	ENST00000378163.1	-	16	1993	c.1519delA	c.(1519-1521)atgfs	p.M507fs	CASK_ENST00000361962.4_Frame_Shift_Del_p.M507fs|CASK_ENST00000421587.2_Frame_Shift_Del_p.M501fs|RNU6-1321P_ENST00000390905.1_RNA|CASK_ENST00000378166.4_Frame_Shift_Del_p.M507fs|CASK_ENST00000318588.9_Frame_Shift_Del_p.M507fs|CASK_ENST00000472704.1_5'UTR|CASK_ENST00000442742.2_Frame_Shift_Del_p.M507fs|CASK_ENST00000378158.1_Frame_Shift_Del_p.M507fs|CASK_ENST00000378154.1_Frame_Shift_Del_p.M507fs			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	507	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)	p.M507fs*1(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						AGTTCATTCATTTTTAAAGTG	0.303																																					p.M507X	NSCLC(42;104 1086 3090 27189 35040)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1519delA	X						.						92.0	89.0	90.0					X																	41428984		2202	4300	6502	41313928	SO:0001589	frameshift_variant	8573	exon16			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1519delA	X.37:g.41428984delT	ENSP00000367405:p.Met507fs		41313928	NM_001126054	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Frame_Shift_Del	DEL	ENST00000378163.1	37																																																																																					0.303	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688	
KCND1	3750	broad.mit.edu	37	X	48826473	48826473	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:48826473G>A	ENST00000218176.3	-	1	1503	c.206C>T	c.(205-207)tCg>tTg	p.S69L	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	69					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)	p.S69L(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	TTCCTTCTCCGAGCTGCCCAG	0.567																																					p.S69L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C206T	X						.						46.0	31.0	36.0					X																	48826473		2203	4300	6503	48711417	SO:0001583	missense	3750	exon1			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.206C>T	X.37:g.48826473G>A	ENSP00000218176:p.Ser69Leu		48711417	NM_004979	A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	G	7.149	0.583285	0.13749	.	.	ENSG00000102057	ENST00000218176	T	0.34472	1.36	4.5	3.64	0.41730	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.084250	0.49916	D	0.000129	T	0.20820	0.0501	N	0.16166	0.38	0.44508	D	0.99745	B	0.27594	0.182	B	0.26693	0.072	T	0.05115	-1.0905	10	0.27785	T	0.31	.	10.8444	0.46735	0.097:0.0:0.903:0.0	.	69	Q9NSA2	KCND1_HUMAN	L	69	ENSP00000218176:S69L	ENSP00000218176:S69L	S	-	2	0	KCND1	48711417	1.000000	0.71417	0.143000	0.22291	0.103000	0.19146	9.601000	0.98297	1.029000	0.39812	0.513000	0.50165	TCG		0.567	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979	
PRICKLE3	4007	broad.mit.edu	37	X	49032336	49032336	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:49032336G>A	ENST00000376317.3	-	9	1628	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C	PRICKLE3_ENST00000536904.1_Missense_Mutation_p.R431C|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.R336C|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.R444C	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	512							zinc ion binding (GO:0008270)	p.R512C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						tgatggtggCGGCGACGGCTG	0.662																																					p.R512C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1534T	X						.						46.0	37.0	40.0					X																	49032336		2203	4300	6503	48919280	SO:0001583	missense	4007	exon9			BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1534C>T	X.37:g.49032336G>A	ENSP00000365494:p.Arg512Cys		48919280	NM_006150	B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	CCDS14320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	4.775|4.775	0.144177|0.144177	0.09134|0.09134	.|.	.|.	ENSG00000012211|ENSG00000012211	ENST00000453382|ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114	.|T;T;T;T	.|0.70399	.|-0.44;-0.44;-0.44;-0.48	3.79|3.79	1.87|1.87	0.25490|0.25490	.|.	.|0.647725	.|0.12850	.|N	.|0.433981	T|T	0.50905|0.50905	0.1643|0.1643	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.0;0.001;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.45220|0.45220	-0.9276|-0.9276	5|10	.|0.87932	.|D	.|0	-4.721|-4.721	4.0521|4.0521	0.09800|0.09800	0.1331:0.0:0.6389:0.228|0.1331:0.0:0.6389:0.228	.|.	.|474;431;512	.|B7Z6S4;B7Z8F2;O43900	.|.;.;PRIC3_HUMAN	L|C	524|512;431;444;336	.|ENSP00000365494:R512C;ENSP00000441385:R431C;ENSP00000446051:R444C;ENSP00000441743:R336C	.|ENSP00000365494:R512C	P|R	-|-	2|1	0|0	PRICKLE3|PRICKLE3	48919280|48919280	0.051000|0.051000	0.20477|0.20477	0.001000|0.001000	0.08648|0.08648	0.025000|0.025000	0.11179|0.11179	2.693000|2.693000	0.47027|0.47027	0.647000|0.647000	0.30713|0.30713	0.455000|0.455000	0.32223|0.32223	CCG|CGC		0.662	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150	
DGKK	139189	broad.mit.edu	37	X	50144116	50144116	+	RNA	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:50144116G>A	ENST00000376025.2	-	0	1389							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R240W(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTGGAAAACCGTCTCCTACAG	0.448																																					p.R444W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1330T	X						.						70.0	58.0	62.0					X																	50144116		1927	4130	6057	50160856			139189	exon8			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50144116G>A			50160856	NM_001013742	B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37																																																																																					0.448	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742	
IQSEC2	23096	broad.mit.edu	37	X	53283905	53283905	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:53283905G>T	ENST00000375368.5	-	3	1378	c.1178C>A	c.(1177-1179)cCc>cAc	p.P393H	IQSEC2_ENST00000396435.3_Missense_Mutation_p.P403H|IQSEC2_ENST00000375365.2_Missense_Mutation_p.P198H			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	393					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.P400H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GAAGTACGCGGGGTTCTGTGC	0.622																																					p.P403H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1208A	X						.						45.0	29.0	34.0					X																	53283905		2202	4300	6502	53300630	SO:0001583	missense	23096	exon4			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1178C>A	X.37:g.53283905G>T	ENSP00000364517:p.Pro393His		53300630	NM_001111125	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37		.	.	.	.	.	.	.	.	.	.	G	24.5	4.540031	0.85917	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	D;D;D	0.81499	-1.5;-1.5;-1.5	5.09	5.09	0.68999	.	0.301216	0.29059	N	0.013275	T	0.78084	0.4228	L	0.27053	0.805	0.40365	D	0.979282	D;P	0.54207	0.965;0.867	P;P	0.53313	0.723;0.466	T	0.75096	-0.3438	10	0.17369	T	0.5	.	16.3278	0.82994	0.0:0.0:1.0:0.0	.	403;198	Q5JU85-2;Q5JU85-3	.;.	H	403;393;198	ENSP00000379712:P403H;ENSP00000364517:P393H;ENSP00000364514:P198H	ENSP00000364514:P198H	P	-	2	0	IQSEC2	53300630	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	9.424000	0.97464	2.108000	0.64289	0.513000	0.50165	CCC		0.622	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345	
ZXDB	158586	broad.mit.edu	37	X	57619606	57619606	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:57619606G>A	ENST00000374888.1	+	1	1338	c.1125G>A	c.(1123-1125)acG>acA	p.T375T		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	375	Required for interaction with ZXDC. {ECO:0000250}.				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.T375T(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GCTTCCCCACGCAGGCCAAAC	0.562																																					p.T375T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1125A	X						.						105.0	88.0	94.0					X																	57619606		2203	4300	6503	57636331	SO:0001819	synonymous_variant	158586	exon1			L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.1125G>A	X.37:g.57619606G>A			57636331	NM_007157	A8K151|Q9UBB3	Silent	SNP	ENST00000374888.1	37	CCDS35313.1																																																																																				0.562	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157	
AMER1	139285	broad.mit.edu	37	X	63412648	63412648	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:63412648delA	ENST00000330258.3	-	2	791	c.519delT	c.(517-519)tttfs	p.F173fs	AMER1_ENST00000403336.1_Frame_Shift_Del_p.F173fs|AMER1_ENST00000374869.3_Frame_Shift_Del_p.F173fs	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	173					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.F173fs*36(6)									GGATACTGCTAAAAAAGCCTT	0.562																																					p.F173fs												.	.	73	Whole gene deletion(67)|Deletion - Frameshift(6)	kidney(65)|large_intestine(7)|ovary(1)	c.519delT	X						.						52.0	50.0	51.0					X																	63412648		2203	4300	6503	63329373	SO:0001589	frameshift_variant	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.519delT	X.37:g.63412648delA	ENSP00000329117:p.Phe173fs		63329373	NM_152424	A2IB86|Q8N885	Frame_Shift_Del	DEL	ENST00000330258.3	37	CCDS14377.2																																																																																				0.562	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
MSN	4478	broad.mit.edu	37	X	64949552	64949552	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:64949552G>A	ENST00000360270.5	+	4	617	c.445G>A	c.(445-447)Gga>Aga	p.G149R		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	149	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.G149R(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						CTACCTGGCCGGAGACAAGTT	0.587			T	ALK	ALCL																																p.G149R			Dom	yes		X	Xq11.2-q12	4478	moesin		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G445A	X						.						53.0	36.0	42.0					X																	64949552		2203	4300	6503	64866277	SO:0001583	missense	4478	exon4			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.445G>A	X.37:g.64949552G>A	ENSP00000353408:p.Gly149Arg		64866277	NM_002444		Missense_Mutation	SNP	ENST00000360270.5	37	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484133	0.44147	.	.	ENSG00000147065	ENST00000360270	T	0.76968	-1.06	5.85	5.85	0.93711	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.152115	0.64402	D	0.000012	T	0.64549	0.2608	N	0.21282	0.65	0.40583	D	0.981417	B	0.06786	0.001	B	0.09377	0.004	T	0.60347	-0.7281	10	0.29301	T	0.29	.	11.9562	0.52983	0.0848:0.0:0.9152:0.0	.	149	P26038	MOES_HUMAN	R	149	ENSP00000353408:G149R	ENSP00000353408:G149R	G	+	1	0	MSN	64866277	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	1.686000	0.37669	2.484000	0.83849	0.529000	0.55759	GGA		0.587	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444	
KIAA2022	340533	broad.mit.edu	37	X	73960071	73960071	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:73960071C>T	ENST00000055682.6	-	3	4932	c.4321G>A	c.(4321-4323)Gga>Aga	p.G1441R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1441					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.G1441R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGTGTCGGTCCGTTATTGCCT	0.453																																					p.G1441R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4321A	X						.						212.0	175.0	187.0					X																	73960071		2203	4300	6503	73876796	SO:0001583	missense	340533	exon3				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4321G>A	X.37:g.73960071C>T	ENSP00000055682:p.Gly1441Arg		73876796	NM_001008537	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.05|15.05	2.719519|2.719519	0.48728|0.48728	.|.	.|.	ENSG00000050030|ENSG00000050030	ENST00000373468;ENST00000055682|ENST00000424929	T;T|.	0.33216|.	1.42;1.42|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.277109|.	0.41938|.	D|.	0.000789|.	T|T	0.52008|0.52008	0.1708|0.1708	N|N	0.17082|0.17082	0.46|0.46	0.53688|0.53688	D|D	0.999972|0.999972	P|.	0.39022|.	0.655|.	B|.	0.36885|.	0.235|.	T|T	0.48714|0.48714	-0.9011|-0.9011	10|5	0.62326|.	D|.	0.03|.	-0.9325|-0.9325	18.1933|18.1933	0.89813|0.89813	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1441|.	Q5QGS0|.	K2022_HUMAN|.	R|Q	1441|42	ENSP00000362567:G1441R;ENSP00000055682:G1441R|.	ENSP00000055682:G1441R|.	G|R	-|-	1|2	0|0	KIAA2022|KIAA2022	73876796|73876796	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.995000|0.995000	0.86356|0.86356	7.487000|7.487000	0.81328|0.81328	2.234000|2.234000	0.73211|0.73211	0.544000|0.544000	0.68410|0.68410	GGA|CGG		0.453	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
AMOT	154796	broad.mit.edu	37	X	112065639	112065639	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:112065639delG	ENST00000524145.1	-	2	790	c.716delC	c.(715-717)ccafs	p.P240fs	AMOT_ENST00000371962.1_Frame_Shift_Del_p.P8fs|AMOT_ENST00000371958.1_Frame_Shift_Del_p.P8fs|AMOT_ENST00000304758.1_Intron|AMOT_ENST00000371959.3_Frame_Shift_Del_p.P240fs|AMOT_ENST00000462114.1_5'Flank			Q4VCS5	AMOT_HUMAN	angiomotin	240					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.P239fs*14(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ATATTCTGGTGGGGGGCCTCG	0.557																																					p.P239fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.716delC	X						.						130.0	110.0	116.0					X																	112065639		692	1591	2283	111952295	SO:0001589	frameshift_variant	154796	exon1			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.716delC	X.37:g.112065639delG	ENSP00000429013:p.Pro240fs		111952295	NM_001113490	Q504X5|Q9HD27|Q9UPT1	Frame_Shift_Del	DEL	ENST00000524145.1	37	CCDS48154.1																																																																																				0.557	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265	
GABRQ	55879	broad.mit.edu	37	X	151821062	151821062	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:151821062delC	ENST00000370306.2	+	9	1237	c.1217delC	c.(1216-1218)gccfs	p.A406fs		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	406					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.L408fs*10(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCAGCGCAGGCCCCCCTGGCA	0.587																																					p.A406fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1217delC	X						.						65.0	62.0	63.0					X																	151821062		2203	4300	6503	151571718	SO:0001589	frameshift_variant	55879	exon9			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1217delC	X.37:g.151821062delC	ENSP00000359329:p.Ala406fs		151571718	NM_018558	A6NFN1|Q32MB4|Q9NZK8	Frame_Shift_Del	DEL	ENST00000370306.2	37	CCDS14707.1																																																																																				0.587	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558	
BGN	633	broad.mit.edu	37	X	152771346	152771346	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:152771346T>A	ENST00000331595.4	+	4	563	c.377T>A	c.(376-378)aTc>aAc	p.I126N	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	126					blood vessel remodeling (GO:0001974)|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 organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)	p.I126N(1)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AACAACAAGATCTCCAAGATC	0.612																																					p.I126N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T377A	X						.						46.0	37.0	40.0					X																	152771346		2203	4297	6500	152424540	SO:0001583	missense	633	exon4			AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.377T>A	X.37:g.152771346T>A	ENSP00000327336:p.Ile126Asn		152424540	NM_001711	D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	CCDS14721.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407732	0.83340	.	.	ENSG00000182492	ENST00000331595;ENST00000431891;ENST00000370204;ENST00000430380	T;T;T	0.63580	-0.05;0.08;-0.05	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.85557	0.5724	H	0.98027	4.13	0.80722	D	1	D	0.60575	0.988	D	0.69307	0.963	D	0.90248	0.4291	10	0.87932	D	0	-31.1783	12.7655	0.57388	0.0:0.0:0.0:1.0	.	126	P21810	PGS1_HUMAN	N	126;143;65;65	ENSP00000327336:I126N;ENSP00000402525:I143N;ENSP00000359223:I65N	ENSP00000327336:I126N	I	+	2	0	BGN	152424540	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.733000	0.84916	1.721000	0.51461	0.388000	0.25769	ATC		0.612	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711	
ODC1	4953	broad.mit.edu	37	2	10582260	10582260	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:10582260G>A	ENST00000234111.4	-	9	1301	c.791C>T	c.(790-792)cCg>cTg	p.P264L	ODC1_ENST00000446285.1_5'Flank|ODC1_ENST00000405333.1_Missense_Mutation_p.P264L	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	264					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.P264L(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)	AGAGTCTGACGGAAAGTATTT	0.438																																					p.P264L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C791T	2						.						71.0	73.0	72.0					2																	10582260		2203	4300	6503	10499711	SO:0001583	missense	4953	exon9				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.791C>T	2.37:g.10582260G>A	ENSP00000234111:p.Pro264Leu		10499711	NM_002539	Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933360	0.73442	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.52057	0.68;0.68	5.95	5.95	0.96441	Orn/DAP/Arg decarboxylase 2, N-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (1);	0.049431	0.85682	D	0.000000	T	0.68229	0.2978	M	0.87758	2.905	0.80722	D	1	D	0.55605	0.972	P	0.52189	0.692	T	0.73477	-0.3970	10	0.72032	D	0.01	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	264	P11926	DCOR_HUMAN	L	264;264;135	ENSP00000234111:P264L;ENSP00000385333:P264L	ENSP00000234111:P264L	P	-	2	0	ODC1	10499711	1.000000	0.71417	0.391000	0.26233	0.141000	0.21300	9.807000	0.99171	2.817000	0.96982	0.563000	0.77884	CCG		0.438	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2		
TGFBRAP1	9392	broad.mit.edu	37	2	105897177	105897177	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:105897177G>A	ENST00000393359.2	-	6	1551	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	TGFBRAP1_ENST00000258449.1_Silent_p.S375S			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	375					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.S375S(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CAAGCTGGCCGCTTCTGCAAT	0.542																																					p.S375S	Esophageal Squamous(183;794 2019 9730 21801 48859)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1125T	2						.						61.0	61.0	61.0					2																	105897177		2203	4300	6503	105263609	SO:0001819	synonymous_variant	9392	exon6			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1125C>T	2.37:g.105897177G>A			105263609	NM_004257	A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	CCDS2067.1																																																																																				0.542	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257	
EDAR	10913	broad.mit.edu	37	2	109529181	109529181	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:109529181C>T	ENST00000258443.2	-	6	912	c.482G>A	c.(481-483)gGc>gAc	p.G161D	EDAR_ENST00000409271.1_Missense_Mutation_p.G161D|EDAR_ENST00000376651.1_Missense_Mutation_p.G161D	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	161					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.G161D(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCCCGAGGTGCCAGGGAAGTT	0.567																																					p.G161D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G482A	2						.						52.0	48.0	49.0					2																	109529181		2203	4299	6502	108895613	SO:0001583	missense	10913	exon6			AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.482G>A	2.37:g.109529181C>T	ENSP00000258443:p.Gly161Asp		108895613	NM_022336	B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688453	0.48097	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.90069	-2.61;-2.59;-2.61	5.26	5.26	0.73747	.	0.430453	0.28016	N	0.016930	D	0.82815	0.5119	N	0.22421	0.69	0.33307	D	0.565556	B;B	0.23058	0.079;0.012	B;B	0.18871	0.023;0.01	T	0.81378	-0.0960	10	0.28530	T	0.3	-12.1006	18.8621	0.92276	0.0:1.0:0.0:0.0	.	161;161	E9PC98;Q9UNE0	.;EDAR_HUMAN	D	161	ENSP00000386371:G161D;ENSP00000258443:G161D;ENSP00000365839:G161D	ENSP00000258443:G161D	G	-	2	0	EDAR	108895613	1.000000	0.71417	0.919000	0.36401	0.008000	0.06430	5.758000	0.68776	2.437000	0.82529	0.655000	0.94253	GGC		0.567	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1		
SH3RF3	344558	broad.mit.edu	37	2	110065656	110065656	+	Missense_Mutation	SNP	G	G	A	rs376984287	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:110065656G>A	ENST00000309415.6	+	8	1859	c.1859G>A	c.(1858-1860)cGg>cAg	p.R620Q		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	620							zinc ion binding (GO:0008270)	p.R620Q(1)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GCTCAGGACCGGCCAACTGCC	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		15538	0.002		0.0	False		,,,				2504	0.0				p.R620Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1859A	2						.	G	GLN/ARG	0,4328		0,0,2164	19.0	26.0	24.0		1859	4.3	0.2	2		24	1,8509		0,1,4254	no	missense	SH3RF3	NM_001099289.1	43	0,1,6418	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	620/883	110065656	1,12837	2164	4255	6419	109432088	SO:0001583	missense	344558	exon8			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1859G>A	2.37:g.110065656G>A	ENSP00000309186:p.Arg620Gln		109432088	NM_001099289	A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37		.	.	.	.	.	.	.	.	.	.	G	15.07	2.723127	0.48728	0.0	1.18E-4	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.59638	0.25;1.99	5.15	4.28	0.50868	.	0.062791	0.64402	D	0.000007	T	0.68723	0.3032	.	.	.	0.47214	D	0.999354	D	0.65815	0.995	P	0.56088	0.791	T	0.72701	-0.4214	9	0.56958	D	0.05	-21.7545	13.7407	0.62847	0.0736:0.0:0.9264:0.0	.	620	Q8TEJ3	SH3R3_HUMAN	Q	620	ENSP00000414997:R620Q;ENSP00000309186:R620Q	ENSP00000309186:R620Q	R	+	2	0	SH3RF3	109432088	1.000000	0.71417	0.166000	0.22797	0.013000	0.08279	4.991000	0.63883	1.412000	0.46977	-0.136000	0.14681	CGG		0.652	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289	
BUB1	699	broad.mit.edu	37	2	111406833	111406833	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:111406833C>T	ENST00000302759.6	-	19	2443	c.2325G>A	c.(2323-2325)aaG>aaA	p.K775K	BUB1_ENST00000535254.1_Silent_p.K755K|BUB1_ENST00000409311.1_Silent_p.K775K	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	775					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K775K(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CAGTCTTGGGCTTGATGGCTG	0.353																																					p.K775K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2325A	2						.						95.0	98.0	97.0					2																	111406833		2203	4300	6503	111123305	SO:0001819	synonymous_variant	699	exon19			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2325G>A	2.37:g.111406833C>T			111123305	NM_004336	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	CCDS33273.1																																																																																				0.353	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336	
FBLN7	129804	broad.mit.edu	37	2	112944926	112944926	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:112944926G>A	ENST00000331203.2	+	8	1434	c.1163G>A	c.(1162-1164)cGt>cAt	p.R388H	FBLN7_ENST00000409450.3_Missense_Mutation_p.R342H|FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Missense_Mutation_p.R254H	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	388					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R388H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GTGATGCAGCGTTCAGACCGG	0.647																																					p.R388H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1163A	2						.						92.0	93.0	93.0					2																	112944926		2203	4300	6503	112661397	SO:0001583	missense	129804	exon8				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1163G>A	2.37:g.112944926G>A	ENSP00000331411:p.Arg388His		112661397	NM_153214	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	35	5.479192	0.96307	.	.	ENSG00000144152	ENST00000331203;ENST00000409667;ENST00000409450;ENST00000272559	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.69922	0.3165	M	0.72894	2.215	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	0.72833	-0.4173	10	0.87932	D	0	-35.5253	19.2064	0.93732	0.0:0.0:1.0:0.0	.	254;342;388	Q53RD9-4;Q53RD9-2;Q53RD9	.;.;FBLN7_HUMAN	H	388;254;342;210	ENSP00000331411:R388H;ENSP00000386822:R254H;ENSP00000387000:R342H;ENSP00000272559:R210H	ENSP00000272559:R210H	R	+	2	0	FBLN7	112661397	1.000000	0.71417	0.995000	0.50966	0.960000	0.62799	9.368000	0.97152	2.542000	0.85734	0.555000	0.69702	CGT		0.647	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214	
WDR33	55339	broad.mit.edu	37	2	128520690	128520690	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:128520690C>T	ENST00000322313.4	-	7	828	c.670G>A	c.(670-672)Ggc>Agc	p.G224S	WDR33_ENST00000409658.3_3'UTR|WDR33_ENST00000393006.1_Missense_Mutation_p.G224S	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	224					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G224S(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTAACAGTGCCGTCATCAGAG	0.408																																					p.G224S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G670A	2						.						125.0	117.0	120.0					2																	128520690		2203	4300	6503	128237160	SO:0001583	missense	55339	exon7				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.670G>A	2.37:g.128520690C>T	ENSP00000325377:p.Gly224Ser		128237160	NM_018383	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270626	0.40194	.	.	ENSG00000136709	ENST00000322313;ENST00000436787;ENST00000393006	T;T;T	0.64618	-0.11;-0.11;-0.11	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	L	0.39514	1.22	0.80722	D	1	B;D	0.89917	0.358;1.0	B;D	0.91635	0.091;0.999	T	0.67741	-0.5592	10	0.30078	T	0.28	-7.0305	20.3552	0.98837	0.0:1.0:0.0:0.0	.	224;224	Q6NUQ0;Q9C0J8	.;WDR33_HUMAN	S	224;146;224	ENSP00000325377:G224S;ENSP00000397547:G146S;ENSP00000376730:G224S	ENSP00000325377:G224S	G	-	1	0	WDR33	128237160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.812000	0.96745	0.558000	0.71614	GGC		0.408	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	
UGGT1	56886	broad.mit.edu	37	2	128903422	128903422	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:128903422G>A	ENST00000259253.6	+	18	1944	c.1897G>A	c.(1897-1899)Gtt>Att	p.V633I	UGGT1_ENST00000375990.3_Missense_Mutation_p.V609I	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	633					'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.V633I(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						ACCTCTGCCCGTTGTGCTGTT	0.438																																					p.V633I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1897A	2						.						155.0	141.0	146.0					2																	128903422		2203	4300	6503	128619892	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.1897G>A	2.37:g.128903422G>A	ENSP00000259253:p.Val633Ile		128619892	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462511	0.26248	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.35236	1.32;1.32	5.62	4.73	0.59995	.	0.053440	0.85682	D	0.000000	T	0.33731	0.0873	M	0.62723	1.935	0.54753	D	0.999986	B;B	0.13145	0.005;0.007	B;B	0.12837	0.008;0.003	T	0.08554	-1.0716	10	0.22706	T	0.39	.	11.2711	0.49140	0.1398:0.0:0.8602:0.0	.	609;633	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	I	609;633	ENSP00000365158:V609I;ENSP00000259253:V633I	ENSP00000259253:V633I	V	+	1	0	UGGT1	128619892	0.999000	0.42202	0.775000	0.31657	0.417000	0.31264	2.934000	0.48956	2.638000	0.89438	0.585000	0.79938	GTT		0.438	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
GPR39	2863	broad.mit.edu	37	2	133175300	133175300	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:133175300G>A	ENST00000329321.3	+	1	1154	c.685G>A	c.(685-687)Gtg>Atg	p.V229M		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	229					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)	p.V229M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGGCGCCTTCGTGGTCTACCT	0.617																																					p.V229M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G685A	2						.						85.0	78.0	80.0					2																	133175300		2203	4300	6503	132891770	SO:0001583	missense	2863	exon1			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.685G>A	2.37:g.133175300G>A	ENSP00000327417:p.Val229Met		132891770	NM_001508	B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886496	0.33348	.	.	ENSG00000183840	ENST00000329321	T	0.74737	-0.87	4.93	8.5E-4	0.14044	GPCR, rhodopsin-like superfamily (1);	0.931444	0.09118	N	0.846117	T	0.78368	0.4272	L	0.57536	1.79	0.09310	N	1	D	0.54601	0.967	P	0.56042	0.79	T	0.66724	-0.5851	10	0.56958	D	0.05	.	9.4743	0.38862	0.5846:0.0:0.4154:0.0	.	229	O43194	GPR39_HUMAN	M	229	ENSP00000327417:V229M	ENSP00000327417:V229M	V	+	1	0	GPR39	132891770	0.000000	0.05858	0.018000	0.16275	0.479000	0.33129	0.090000	0.15025	0.101000	0.17610	0.585000	0.79938	GTG		0.617	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1		
ZRANB3	84083	broad.mit.edu	37	2	135985518	135985518	+	Silent	SNP	G	G	T	rs568807221	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:135985518G>T	ENST00000264159.6	-	14	2138	c.2022C>A	c.(2020-2022)acC>acA	p.T674T	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Silent_p.T674T|ZRANB3_ENST00000536680.1_Silent_p.T674T	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	674					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.T139T(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CCTTTTTGGAGGTGTCTTTCT	0.363																																					p.T674T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2022A	2						.						101.0	84.0	89.0					2																	135985518		1818	4040	5858	135701988	SO:0001819	synonymous_variant	84083	exon14			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2022C>A	2.37:g.135985518G>T			135701988	NM_032143	B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Silent	SNP	ENST00000264159.6	37	CCDS46419.1																																																																																				0.363	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143	
LCT	3938	broad.mit.edu	37	2	136575285	136575285	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:136575285C>T	ENST00000264162.2	-	6	1343	c.1333G>A	c.(1333-1335)Ggc>Agc	p.G445S	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	445	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.G445S(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)	GCCCGGAGGCCGCAAAGCAGG	0.642																																					p.G445S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1333A	2						.						69.0	65.0	66.0					2																	136575285		2203	4300	6503	136291755	SO:0001583	missense	3938	exon6			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1333G>A	2.37:g.136575285C>T	ENSP00000264162:p.Gly445Ser		136291755	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	33	5.271003	0.95429	.	.	ENSG00000115850	ENST00000264162	T	0.49432	0.78	5.77	5.77	0.91146	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.052557	0.85682	D	0.000000	T	0.56247	0.1972	N	0.21508	0.67	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.47114	-0.9142	10	0.23302	T	0.38	-15.8411	20.3627	0.98863	0.0:1.0:0.0:0.0	.	445	P09848	LPH_HUMAN	S	445	ENSP00000264162:G445S	ENSP00000264162:G445S	G	-	1	0	LCT	136291755	1.000000	0.71417	0.832000	0.32986	0.988000	0.76386	6.053000	0.71089	2.885000	0.99019	0.655000	0.94253	GGC		0.642	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
THSD7B	80731	broad.mit.edu	37	2	138413226	138413226	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:138413226C>T	ENST00000409968.1	+	22	4279	c.4101C>T	c.(4099-4101)tgC>tgT	p.C1367C	THSD7B_ENST00000272643.3_Silent_p.C1370C|THSD7B_ENST00000413152.2_Silent_p.C1339C|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1369	TSP type-1 17. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.C1370C(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)		CTGTGCCTTGCCCAGGTATGC	0.463																																					p.A1338V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4013T	2						.						59.0	58.0	58.0					2																	138413226		2034	4197	6231	138129696	SO:0001819	synonymous_variant	80731	exon21					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.4101C>T	2.37:g.138413226C>T			138129696	NM_001080427		Silent	SNP	ENST00000409968.1	37																																																																																					0.463	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
MBD5	55777	broad.mit.edu	37	2	149248058	149248058	+	Silent	SNP	C	C	T	rs543329958		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:149248058C>T	ENST00000407073.1	+	12	5155	c.4158C>T	c.(4156-4158)ggC>ggT	p.G1386G	MBD5_ENST00000404807.1_Silent_p.G1619G	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1386	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.G1386G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCAATGTTGGCGACTTGGTCT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		18682	0.001		0.0	False		,,,				2504	0.0				p.G1386G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4158T	2						.						77.0	77.0	77.0					2																	149248058		2203	4300	6503	148964528	SO:0001819	synonymous_variant	55777	exon12			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4158C>T	2.37:g.149248058C>T			148964528	NM_018328	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	CCDS33302.1																																																																																				0.448	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2		
PXDN	7837	broad.mit.edu	37	2	1667493	1667493	+	Missense_Mutation	SNP	G	G	A	rs548513750		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:1667493G>A	ENST00000252804.4	-	12	1501	c.1451C>T	c.(1450-1452)tCg>tTg	p.S484L	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	484	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.S484L(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AAGTGTTCCCGATGACAGGAC	0.617																																					p.S484L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1451T	2						.						67.0	75.0	73.0					2																	1667493		2041	4166	6207	1646500	SO:0001583	missense	7837	exon12			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1451C>T	2.37:g.1667493G>A	ENSP00000252804:p.Ser484Leu		1646500	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.79|16.79	3.220621|3.220621	0.58560|0.58560	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.68181	.|-0.31	5.79|5.79	5.79|5.79	0.91817|0.91817	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.141323	.|0.48767	.|D	.|0.000161	T|T	0.76550|0.76550	0.4003|0.4003	L|L	0.55481|0.55481	1.735|1.735	0.50039|0.50039	D|D	0.999842|0.999842	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.63033	.|0.91;0.909	T|T	0.76713|0.76713	-0.2858|-0.2858	5|10	.|0.54805	.|T	.|0.06	-25.0738|-25.0738	15.5016|15.5016	0.75703|0.75703	0.0:0.1377:0.8623:0.0|0.0:0.1377:0.8623:0.0	.|.	.|484;484	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	W|L	480|484	.|ENSP00000252804:S484L	.|ENSP00000252804:S484L	R|S	-|-	1|2	2|0	PXDN|PXDN	1646500|1646500	0.997000|0.997000	0.39634|0.39634	0.132000|0.132000	0.22025|0.22025	0.115000|0.115000	0.19883|0.19883	6.166000|6.166000	0.71896|0.71896	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.617	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
CACNB4	785	broad.mit.edu	37	2	152727085	152727085	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:152727085C>T	ENST00000539935.1	-	8	726	c.659G>A	c.(658-660)cGt>cAt	p.R220H	CACNB4_ENST00000201943.5_Missense_Mutation_p.R220H|CACNB4_ENST00000397327.2_Missense_Mutation_p.R173H|CACNB4_ENST00000427385.1_Missense_Mutation_p.R202H|CACNB4_ENST00000534999.1_Missense_Mutation_p.R186H|CACNB4_ENST00000360283.6_Missense_Mutation_p.R187H	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	220					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R220H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CACCACCGGACGCATTGACGG	0.498																																					p.R220H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G659A	2						.						85.0	86.0	86.0					2																	152727085		2101	4215	6316	152435331	SO:0001583	missense	785	exon8			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.659G>A	2.37:g.152727085C>T	ENSP00000438949:p.Arg220His		152435331	NM_001145798	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	36	5.720892	0.96839	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.91	5.91	0.95273	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.997;0.999;0.995	D	0.83531	0.0091	10	0.87932	D	0	-11.1915	20.2983	0.98569	0.0:1.0:0.0:0.0	.	220;186;220;202;186	A7BJ74;E7DBM8;O00305;B4DG40;O00305-2	.;.;CACB4_HUMAN;.;.	H	220;187;177;215;186;173;202;220;221	ENSP00000438949:R220H;ENSP00000353425:R187H;ENSP00000390161:R215H;ENSP00000443893:R186H;ENSP00000380490:R173H;ENSP00000410978:R202H;ENSP00000201943:R220H	ENSP00000201943:R220H	R	-	2	0	CACNB4	152435331	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.746000	0.85057	2.802000	0.96397	0.655000	0.94253	CGT		0.498	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3	
SCN2A	6326	broad.mit.edu	37	2	166152376	166152376	+	Missense_Mutation	SNP	C	C	T	rs551347418		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:166152376C>T	ENST00000375437.2	+	2	333	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	SCN2A_ENST00000375427.2_Missense_Mutation_p.R15C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R15C|SCN2A_ENST00000357398.3_Missense_Mutation_p.R15C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	15					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R15C(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGACAGCTTCCGCTTCTTTAC	0.468																																					p.R15C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C43T	2						.						82.0	75.0	77.0					2																	166152376		2203	4300	6503	165860622	SO:0001583	missense	6326	exon1			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.43C>T	2.37:g.166152376C>T	ENSP00000364586:p.Arg15Cys		165860622	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241071	0.58995	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.97114	-4.22;-4.24;-4.25;-4.24;-4.25	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	D	0.97579	0.9207	M	0.92970	3.365	0.80722	D	1	B;B	0.14805	0.011;0.006	B;B	0.12837	0.008;0.006	D	0.95688	0.8738	10	0.72032	D	0.01	.	19.5116	0.95144	0.0:1.0:0.0:0.0	.	15;15	Q99250-2;Q99250	.;SCN2A_HUMAN	C	15	ENSP00000406454:R15C;ENSP00000364586:R15C;ENSP00000349973:R15C;ENSP00000283256:R15C;ENSP00000364576:R15C	ENSP00000283256:R15C	R	+	1	0	SCN2A	165860622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.976000	0.56867	2.619000	0.88677	0.655000	0.94253	CGC		0.468	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
XIRP2	129446	broad.mit.edu	37	2	168106624	168106624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:168106624C>T	ENST00000409195.1	+	9	8811	c.8722C>T	c.(8722-8724)Caa>Taa	p.Q2908*	XIRP2_ENST00000409273.1_Nonsense_Mutation_p.Q2686*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.Q2908*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2733					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.Q2908*(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						ACAAGAGAAACAAGTCTTCTC	0.393																																					p.Q2686X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C8056T	2						.						78.0	73.0	75.0					2																	168106624		1824	4083	5907	167814870	SO:0001587	stop_gained	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.8722C>T	2.37:g.168106624C>T	ENSP00000386840:p.Gln2908*		167814870	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	c	49	15.745629	0.99844	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	.	.	.	6.02	4.23	0.50019	.	0.821127	0.11531	N	0.554655	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-2.9008	10.2958	0.43623	0.143:0.581:0.276:0.0	.	.	.	.	X	2908;2908;2686;322	.	ENSP00000295237:Q2908X	Q	+	1	0	XIRP2	167814870	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	1.189000	0.32114	0.876000	0.35872	-0.121000	0.15023	CAA		0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
SPC25	57405	broad.mit.edu	37	2	169746018	169746018	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:169746018G>A	ENST00000282074.2	-	2	153	c.12C>T	c.(10-12)gaC>gaT	p.D4D	SPC25_ENST00000472216.2_5'UTR	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	4	Interaction with the N-terminus of SPBC24.|Interaction with the NDC80-NUF2 subcomplex.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.D4D(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						GTGCCAGTTCGTCCTCTACCA	0.368																																					p.D4D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C12T	2						.						52.0	49.0	50.0					2																	169746018		2203	4300	6503	169454264	SO:0001819	synonymous_variant	57405	exon2			AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"""spindle pole body component 25 homolog (S. cerevisiae)"", ""SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.12C>T	2.37:g.169746018G>A			169454264	NM_020675	A8K4X8|D3DPC0	Silent	SNP	ENST00000282074.2	37	CCDS2229.1																																																																																				0.368	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	NM_020675	
UBR3	130507	broad.mit.edu	37	2	170937148	170937148	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:170937148G>T	ENST00000272793.5	+	38	5553	c.5503G>T	c.(5503-5505)Ggt>Tgt	p.G1835C	UBR3_ENST00000392631.1_Missense_Mutation_p.G656C|UBR3_ENST00000418381.1_Missense_Mutation_p.G1835C			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1835					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G1835C(1)|p.G688C(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CTGCCTCTGGGGTTCCGTGTA	0.423																																					p.G1835C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5503T	2						.						154.0	143.0	147.0					2																	170937148		2203	4300	6503	170645394	SO:0001583	missense	130507	exon38			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5503G>T	2.37:g.170937148G>T	ENSP00000272793:p.Gly1835Cys		170645394	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37		.	.	.	.	.	.	.	.	.	.	G	28.8	4.955556	0.92726	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	M	0.70903	2.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.62469	-0.6848	10	0.37606	T	0.19	.	19.5215	0.95187	0.0:0.0:1.0:0.0	.	1835;656;1864	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	C	1835;1864;1835;656;535	ENSP00000272793:G1835C;ENSP00000396068:G1835C;ENSP00000376408:G656C;ENSP00000389097:G535C	ENSP00000272793:G1835C	G	+	1	0	UBR3	170645394	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.471000	0.97696	2.585000	0.87301	0.650000	0.86243	GGT		0.423	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
AGPS	8540	broad.mit.edu	37	2	178357914	178357914	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:178357914G>A	ENST00000264167.4	+	12	1418	c.1272G>A	c.(1270-1272)aaG>aaA	p.K424K	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	424					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.K424K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TGGACAACAAGCAGTTTCAGT	0.363																																					p.K424K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1272A	2						.						106.0	107.0	107.0					2																	178357914		2203	4300	6503	178066160	SO:0001819	synonymous_variant	8540	exon12			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1272G>A	2.37:g.178357914G>A			178066160	NM_003659	A5D8U9|Q2TU35	Silent	SNP	ENST00000264167.4	37	CCDS2275.1																																																																																				0.363	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2		
TTC30B	150737	broad.mit.edu	37	2	178416321	178416321	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:178416321G>A	ENST00000408939.3	-	1	1421	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	391					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.R391W(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GTAAGTTTCCGGAGGACCTCA	0.438																																					p.R391W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1171T	2						.						199.0	203.0	202.0					2																	178416321		2203	4300	6503	178124567	SO:0001583	missense	150737	exon1			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1171C>T	2.37:g.178416321G>A	ENSP00000386181:p.Arg391Trp		178124567	NM_152517	Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	G	8.698	0.909108	0.17833	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.29397	1.57	4.77	1.75	0.24633	.	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61973	-0.6952	10	0.87932	D	0	.	8.2721	0.31851	0.0813:0.0:0.5315:0.3872	.	391	Q8N4P2	TT30B_HUMAN	W	344;391	ENSP00000386181:R391W	ENSP00000386181:R391W	R	-	1	2	TTC30B	178124567	1.000000	0.71417	0.999000	0.59377	0.078000	0.17371	0.719000	0.25881	0.707000	0.31934	-0.136000	0.14681	CGG		0.438	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517	
RBM45	129831	broad.mit.edu	37	2	178977395	178977395	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:178977395T>G	ENST00000286070.5	+	1	214	c.122T>G	c.(121-123)cTg>cGg	p.L41R		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	41	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L41R(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GAGTCGGTGCTGAGGGAGCGC	0.627											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L41R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T122G	2						.						80.0	73.0	75.0					2																	178977395		2203	4300	6503	178685641	SO:0001583	missense	129831	exon1			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.122T>G	2.37:g.178977395T>G	ENSP00000286070:p.Leu41Arg	1950	178685641	NM_152945	Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380828	0.82792	.	.	ENSG00000155636	ENST00000286070	T	0.46819	0.86	5.16	2.57	0.30868	.	0.159614	0.41823	D	0.000818	T	0.73651	0.3614	H	0.98027	4.13	0.43368	D	0.995458	D	0.61697	0.99	P	0.61201	0.885	T	0.76857	-0.2804	10	0.87932	D	0	-2.4125	7.2427	0.26106	0.0:0.0777:0.1453:0.7771	.	41	Q8IUH3-3	.	R	41	ENSP00000286070:L41R	ENSP00000286070:L41R	L	+	2	0	RBM45	178685641	1.000000	0.71417	0.637000	0.29366	0.970000	0.65996	5.684000	0.68197	0.901000	0.36495	0.460000	0.39030	CTG		0.627	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945	
NEUROD1	4760	broad.mit.edu	37	2	182542935	182542935	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:182542935G>T	ENST00000295108.3	-	2	1110	c.653C>A	c.(652-654)cCc>cAc	p.P218H	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	218					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|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 regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P218H(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTAGGAGTAGGGGTGTACAGG	0.637																																					p.P218H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C653A	2						.						56.0	65.0	62.0					2																	182542935		2203	4300	6503	182251180	SO:0001583	missense	4760	exon2			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.653C>A	2.37:g.182542935G>T	ENSP00000295108:p.Pro218His		182251180	NM_002500	B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409454	0.25378	.	.	ENSG00000162992	ENST00000295108	T	0.65916	-0.18	6.02	6.02	0.97574	Neurogenic differentiation factor, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	L	0.50333	1.59	0.51482	D	0.999923	B	0.17038	0.02	B	0.23018	0.043	T	0.57740	-0.7759	10	0.72032	D	0.01	-19.5201	19.1109	0.93315	0.0:0.0:1.0:0.0	.	218	Q13562	NDF1_HUMAN	H	218	ENSP00000295108:P218H	ENSP00000295108:P218H	P	-	2	0	NEUROD1	182251180	0.997000	0.39634	1.000000	0.80357	0.972000	0.66771	2.992000	0.49417	2.850000	0.98022	0.650000	0.86243	CCC		0.637	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500	
MYT1L	23040	broad.mit.edu	37	2	1914027	1914027	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:1914027G>A	ENST00000399161.2	-	13	2549	c.1802C>T	c.(1801-1803)tCg>tTg	p.S601L	MYT1L_ENST00000428368.2_Missense_Mutation_p.S599L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	601					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S601L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CACGCGGTCCGAGGCCTGGCT	0.632																																					p.S599L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1796T	2						.						54.0	63.0	60.0					2																	1914027		2095	4209	6304	1893034	SO:0001583	missense	23040	exon13			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1802C>T	2.37:g.1914027G>A	ENSP00000382114:p.Ser601Leu		1893034	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	G	36	5.735631	0.96865	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.50001	0.76;0.76	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.63488	0.915;0.79	T	0.64795	-0.6323	10	0.59425	D	0.04	-13.8321	19.1056	0.93293	0.0:0.0:1.0:0.0	.	601;599	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	L	601;547;599	ENSP00000382114:S601L;ENSP00000396103:S599L	ENSP00000295067:S547L	S	-	2	0	MYT1L	1893034	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	9.464000	0.97655	2.600000	0.87896	0.655000	0.94253	TCG		0.632	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
FRZB	2487	broad.mit.edu	37	2	183707268	183707268	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:183707268C>T	ENST00000295113.4	-	3	1139	c.530G>A	c.(529-531)cGc>cAc	p.R177H		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	177					brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R177H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			ACATTTACAGCGTTCTGAAAA	0.338																																					p.R177H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G530A	2						.						188.0	181.0	184.0					2																	183707268		2203	4300	6503	183415513	SO:0001583	missense	2487	exon3			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.530G>A	2.37:g.183707268C>T	ENSP00000295113:p.Arg177His		183415513	NM_001463	O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226605	0.58668	.	.	ENSG00000162998	ENST00000295113	T	0.73469	-0.75	5.92	5.04	0.67666	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.108195	0.64402	D	0.000004	T	0.61451	0.2348	L	0.41236	1.265	0.80722	D	1	B	0.18310	0.027	B	0.12837	0.008	T	0.53521	-0.8427	10	0.13853	T	0.58	.	9.8643	0.41134	0.0:0.8505:0.0:0.1495	.	177	Q92765	SFRP3_HUMAN	H	177	ENSP00000295113:R177H	ENSP00000295113:R177H	R	-	2	0	FRZB	183415513	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.388000	0.59633	2.818000	0.97014	0.655000	0.94253	CGC		0.338	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463	
COL5A2	1290	broad.mit.edu	37	2	189923247	189923247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:189923247G>A	ENST00000374866.3	-	33	2411	c.2137C>T	c.(2137-2139)Cga>Tga	p.R713*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	713					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R713*(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGATTTCCTCGTTCTCCCTAG	0.438																																					p.R713X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2137T	2						.						99.0	93.0	95.0					2																	189923247		2203	4300	6503	189631492	SO:0001587	stop_gained	1290	exon33			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2137C>T	2.37:g.189923247G>A	ENSP00000364000:p.Arg713*		189631492	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Nonsense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	42	9.502324	0.99189	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.52	3.65	0.41850	.	0.000000	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7674	0.69648	0.0:0.0:0.7378:0.2622	.	.	.	.	X	713;353	.	.	R	-	1	2	COL5A2	189631492	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.532000	0.67154	0.746000	0.32786	0.558000	0.71614	CGA		0.438	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
MYO1B	4430	broad.mit.edu	37	2	192214912	192214912	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:192214912G>T	ENST00000392318.3	+	7	770	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	MYO1B_ENST00000392316.1_Missense_Mutation_p.D175Y|MYO1B_ENST00000304164.4_Missense_Mutation_p.D175Y|MYO1B_ENST00000339514.4_Missense_Mutation_p.D175Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	175	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.D175Y(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TATTGAATTTGACTTTAAAGG	0.323																																					p.D175Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G523T	2						.						87.0	91.0	90.0					2																	192214912		2203	4298	6501	191923157	SO:0001583	missense	4430	exon7			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.523G>T	2.37:g.192214912G>T	ENSP00000376132:p.Asp175Tyr		191923157	NM_012223	O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968350	0.74131	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.05	3.22	0.36961	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.88168	0.6364	H	0.94964	3.605	0.80722	D	1	D;D	0.65815	0.995;0.989	D;D	0.70935	0.971;0.964	D	0.89936	0.4069	10	0.87932	D	0	.	10.7846	0.46398	0.1567:0.0:0.8433:0.0	.	175;175	O43795;O43795-2	MYO1B_HUMAN;.	Y	175	ENSP00000341903:D175Y;ENSP00000376132:D175Y;ENSP00000306382:D175Y;ENSP00000388140:D175Y;ENSP00000376130:D175Y	ENSP00000306382:D175Y	D	+	1	0	MYO1B	191923157	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.338000	0.72963	1.266000	0.44231	0.561000	0.74099	GAC		0.323	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
WDR35	57539	broad.mit.edu	37	2	20169327	20169327	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:20169327C>T	ENST00000345530.3	-	9	1037	c.922G>A	c.(922-924)Gca>Aca	p.A308T	WDR35_ENST00000281405.4_Missense_Mutation_p.A308T|WDR35_ENST00000416055.2_5'UTR	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	308					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.A308T(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGATAGTGCAGATATTTCC	0.323																																					p.A308T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G922A	2						.						78.0	80.0	79.0					2																	20169327		2203	4300	6503	20032808	SO:0001583	missense	57539	exon9			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.922G>A	2.37:g.20169327C>T	ENSP00000314444:p.Ala308Thr		20032808	NM_001006657	B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100893	0.56183	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.63096	-0.02;-0.02	4.58	3.67	0.42095	.	0.116795	0.56097	D	0.000027	T	0.59418	0.2192	M	0.69823	2.125	0.80722	D	1	B;B	0.26483	0.15;0.034	B;B	0.34779	0.189;0.081	T	0.51466	-0.8702	10	0.06494	T	0.89	-8.2294	12.0686	0.53603	0.3201:0.6799:0.0:0.0	.	308;308	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	T	308	ENSP00000314444:A308T;ENSP00000281405:A308T	ENSP00000281405:A308T	A	-	1	0	WDR35	20032808	1.000000	0.71417	0.963000	0.40424	0.976000	0.68499	4.954000	0.63631	0.846000	0.35142	0.460000	0.39030	GCA		0.323	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779	
APOB	338	broad.mit.edu	37	2	21256233	21256233	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:21256233C>A	ENST00000233242.1	-	9	1189	c.1062G>T	c.(1060-1062)gaG>gaT	p.E354D	APOB_ENST00000399256.4_Missense_Mutation_p.E354D	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	354	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.E354D(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)					GGCCTCTCAGCTCAGTAACCA	0.428																																					p.E354D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1062T	2						.						122.0	115.0	118.0					2																	21256233		2203	4300	6503	21109738	SO:0001583	missense	338	exon9			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.1062G>T	2.37:g.21256233C>A	ENSP00000233242:p.Glu354Asp		21109738	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	9.636	1.137710	0.21123	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.40756	1.02;1.02	5.53	-0.818	0.10833	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.323197	0.26369	N	0.024766	T	0.37732	0.1014	M	0.67953	2.075	0.28494	N	0.914355	P	0.43578	0.811	P	0.45660	0.489	T	0.36040	-0.9764	10	0.16420	T	0.52	.	6.8045	0.23770	0.0:0.3966:0.2954:0.3081	.	354	P04114	APOB_HUMAN	D	354	ENSP00000233242:E354D;ENSP00000382200:E354D	ENSP00000233242:E354D	E	-	3	2	APOB	21109738	0.118000	0.22208	0.853000	0.33588	0.163000	0.22366	-0.598000	0.05706	0.100000	0.17581	-0.137000	0.14449	GAG		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
DNAH7	56171	broad.mit.edu	37	2	196729378	196729378	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:196729378C>T	ENST00000312428.6	-	41	7101	c.7001G>A	c.(7000-7002)cGc>cAc	p.R2334H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2334	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R2334H(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						AGCATGGCTGCGAGGCTGCTT	0.458																																					p.R2334H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7001A	2						.						92.0	92.0	92.0					2																	196729378		1954	4172	6126	196437623	SO:0001583	missense	56171	exon41			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.7001G>A	2.37:g.196729378C>T	ENSP00000311273:p.Arg2334His		196437623	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561832	0.45590	.	.	ENSG00000118997	ENST00000312428	T	0.57273	0.41	4.7	4.7	0.59300	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.80003	0.4544	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84076	0.0382	10	0.41790	T	0.15	.	17.4131	0.87492	0.0:1.0:0.0:0.0	.	2334	Q8WXX0	DYH7_HUMAN	H	2334	ENSP00000311273:R2334H	ENSP00000311273:R2334H	R	-	2	0	DNAH7	196437623	0.912000	0.30974	0.970000	0.41538	0.188000	0.23474	3.900000	0.56295	2.452000	0.82932	0.460000	0.39030	CGC		0.458	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
ERBB4	2066	broad.mit.edu	37	2	212989544	212989544	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:212989544C>T	ENST00000342788.4	-	2	477	c.167G>A	c.(166-168)tGt>tAt	p.C56Y	ERBB4_ENST00000402597.1_Missense_Mutation_p.C56Y|ERBB4_ENST00000436443.1_Missense_Mutation_p.C56Y	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	56					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.C56Y(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GACAACCTCACAGTTTTCATA	0.498										TSP Lung(8;0.080)																											p.C56Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167A	2						.						143.0	125.0	131.0					2																	212989544		2203	4300	6503	212697789	SO:0001583	missense	2066	exon2			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.167G>A	2.37:g.212989544C>T	ENSP00000342235:p.Cys56Tyr		212697789	NM_005235	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.856759|4.856759	0.91433|0.91433	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	D;D;D|.	0.99755|.	-6.64;-6.64;-6.64|.	5.28|5.28	5.28|5.28	0.74379|0.74379	EGF receptor, L domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88551|0.88551	0.6467|0.6467	H|H	0.97023|0.97023	3.925|3.925	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	0.92387|0.92387	0.5918|0.5918	10|5	0.87932|.	D|.	0|.	.|.	18.918|18.918	0.92513|0.92513	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	56;56;56;56|.	Q15303-4;Q15303-2;Q15303-3;Q15303|.	.;.;.;ERBB4_HUMAN|.	Y|M	56|56	ENSP00000342235:C56Y;ENSP00000403204:C56Y;ENSP00000385565:C56Y|.	ENSP00000342235:C56Y|.	C|V	-|-	2|1	0|0	ERBB4|ERBB4	212697789|212697789	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.769000|7.769000	0.85360|0.85360	2.467000|2.467000	0.83353|0.83353	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.498	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
SPAG16	79582	broad.mit.edu	37	2	214174838	214174838	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:214174838T>G	ENST00000331683.5	+	4	430	c.335T>G	c.(334-336)tTt>tGt	p.F112C	SPAG16_ENST00000272898.7_Missense_Mutation_p.F112C|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000413312.1_Missense_Mutation_p.F81C|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000432529.2_Missense_Mutation_p.F112C|SPAG16_ENST00000447990.1_Missense_Mutation_p.F112C	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	112					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.F112C(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)		ATAGAAGACTTTCTCTGCAAT	0.323																																					p.F112C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T335G	2						.						125.0	133.0	130.0					2																	214174838		2203	4299	6502	213883083	SO:0001583	missense	79582	exon4			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.335T>G	2.37:g.214174838T>G	ENSP00000332592:p.Phe112Cys		213883083	NM_001025436	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964613	0.74131	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000413312;ENST00000272898;ENST00000447990	T	0.76839	-1.05	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.88089	0.6343	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.998;0.993;0.999	D	0.89556	0.3803	10	0.87932	D	0	.	12.4805	0.55839	0.0:0.0:0.0:1.0	.	81;52;112;112	Q8N0X2-3;Q4G1A2;Q8N0X2;Q8N0X2-4	.;.;SPG16_HUMAN;.	C	112;112;81;112;112	ENSP00000332592:F112C	ENSP00000272898:F112C	F	+	2	0	SPAG16	213883083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.793000	0.62474	2.261000	0.74972	0.533000	0.62120	TTT		0.323	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	
XRCC5	7520	broad.mit.edu	37	2	217026709	217026709	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:217026709G>A	ENST00000392133.3	+	18	2233	c.1772G>A	c.(1771-1773)aGt>aAt	p.S591N	XRCC5_ENST00000392132.2_Missense_Mutation_p.S591N			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	591					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.S591N(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)		TAGGTTGGAAGTGTGAATCCT	0.408								Non-homologous end-joining																													p.S591N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1772A	2						.						161.0	156.0	158.0					2																	217026709		2203	4300	6503	216734954	SO:0001583	missense	7520	exon16			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.1772G>A	2.37:g.217026709G>A	ENSP00000375978:p.Ser591Asn		216734954	NM_021141	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032677	0.75504	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.36520	1.25;1.25	5.52	5.52	0.82312	Ku, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	M	0.83012	2.62	0.58432	D	0.999998	P	0.38767	0.646	P	0.46718	0.525	T	0.49113	-0.8973	10	0.32370	T	0.25	.	16.3144	0.82913	0.0:0.0:1.0:0.0	.	591	P13010	XRCC5_HUMAN	N	591	ENSP00000375978:S591N;ENSP00000375977:S591N	ENSP00000375977:S591N	S	+	2	0	XRCC5	216734954	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.136000	0.71703	2.866000	0.98385	0.650000	0.86243	AGT		0.408	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141	
MARCH4	57574	broad.mit.edu	37	2	217234552	217234552	+	Silent	SNP	G	G	A	rs374936017		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:217234552G>A	ENST00000273067.4	-	1	2198	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	144						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T144T(2)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AGCGATCCTCGGTCTTCTCCT	0.587																																					p.T144T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C432T	2						.						72.0	63.0	66.0					2																	217234552		2203	4300	6503	216942797	SO:0001819	synonymous_variant	57574	exon1			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.432C>T	2.37:g.217234552G>A			216942797	NM_020814	Q4KMN7|Q86WR8	Silent	SNP	ENST00000273067.4	37	CCDS33376.1																																																																																				0.587	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814	
GPBAR1	151306	broad.mit.edu	37	2	219127454	219127454	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:219127454C>T	ENST00000522678.1	+	2	875	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	GPBAR1_ENST00000521462.1_Missense_Mutation_p.P3S|GPBAR1_ENST00000479077.1_Missense_Mutation_p.P3S|GPBAR1_ENST00000519574.1_Missense_Mutation_p.P3S	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	3					cell surface bile acid receptor signaling pathway (GO:0038184)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid receptor activity (GO:0038181)|G-protein coupled bile acid receptor activity (GO:0038182)	p.P3S(1)		cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAGATGACGCCCAACAGCAC	0.662																																					p.P3S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7T	2						.						13.0	15.0	15.0					2																	219127454		2058	4175	6233	218835699	SO:0001583	missense	151306	exon2			AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921			19680	protein-coding gene	gene with protein product		610147				12419312	Standard	NM_170699		Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.7C>T	2.37:g.219127454C>T	ENSP00000430886:p.Pro3Ser		218835699	NM_001077191	B3KV35	Missense_Mutation	SNP	ENST00000522678.1	37	CCDS46515.1	.	.	.	.	.	.	.	.	.	.	C	1.580	-0.531812	0.04112	.	.	ENSG00000179921	ENST00000479077;ENST00000522678;ENST00000519574;ENST00000521462	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.62	-2.09	0.07232	.	0.911917	0.08888	N	0.879033	T	0.09335	0.0230	N	0.08118	0	0.26825	N	0.968707	B	0.02656	0.0	B	0.04013	0.001	T	0.39014	-0.9634	10	0.08599	T	0.76	-4.0524	4.6873	0.12764	0.0:0.2673:0.3339:0.3988	.	3	Q8TDU6	GPBAR_HUMAN	S	3	ENSP00000430698:P3S;ENSP00000430886:P3S;ENSP00000430202:P3S;ENSP00000428824:P3S	ENSP00000430698:P3S	P	+	1	0	GPBAR1	218835699	0.250000	0.23951	0.988000	0.46212	0.025000	0.11179	0.116000	0.15561	-0.283000	0.09115	-0.321000	0.08615	CCC		0.662	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338767.3	NM_001077191	
ATG9A	79065	broad.mit.edu	37	2	220088465	220088465	+	Missense_Mutation	SNP	G	G	T	rs190418139	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:220088465G>T	ENST00000409618.1	-	10	1880	c.1441C>A	c.(1441-1443)Ctg>Atg	p.L481M	ATG9A_ENST00000396761.2_Missense_Mutation_p.L481M|ATG9A_ENST00000409422.1_Missense_Mutation_p.L420M|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000361242.4_Missense_Mutation_p.L481M			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	481					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)		p.L481M(1)		endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGGGGCTCAGCAACTCTTCC	0.577																																					p.L481M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1441A	2						.						58.0	67.0	64.0					2																	220088465		2031	4204	6235	219796709	SO:0001583	missense	79065	exon9			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1441C>A	2.37:g.220088465G>T	ENSP00000386710:p.Leu481Met		219796709	NM_024085	Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385903	0.61956	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000429920	T;T;T;T;T	0.38887	1.56;1.56;1.56;1.16;1.11	5.78	5.78	0.91487	.	0.071120	0.56097	D	0.000024	T	0.63827	0.2544	M	0.74389	2.26	0.49798	D	0.999821	D	0.63046	0.992	P	0.60415	0.874	T	0.62525	-0.6836	10	0.46703	T	0.11	-7.1277	20.0204	0.97499	0.0:0.0:1.0:0.0	.	481	Q7Z3C6	ATG9A_HUMAN	M	481;481;481;420;40	ENSP00000379983:L481M;ENSP00000386710:L481M;ENSP00000355173:L481M;ENSP00000386535:L420M;ENSP00000400234:L40M	ENSP00000355173:L481M	L	-	1	2	ATG9A	219796709	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.771000	0.55318	2.729000	0.93468	0.650000	0.86243	CTG		0.577	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085	
PAX3	5077	broad.mit.edu	37	2	223161816	223161816	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:223161816G>A	ENST00000350526.4	-	2	338	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	PAX3_ENST00000392069.2_Missense_Mutation_p.R68W|PAX3_ENST00000258387.5_Missense_Mutation_p.R68W|PAX3_ENST00000344493.4_Missense_Mutation_p.R68W|PAX3_ENST00000336840.6_Missense_Mutation_p.R68W|PAX3_ENST00000409551.3_Missense_Mutation_p.R68W|PAX3_ENST00000409828.3_Missense_Mutation_p.R68W|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000392070.2_Missense_Mutation_p.R68W	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	68	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R68W(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGCAGGGCCGGATGCCGTGG	0.647			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																														p.R68W			Dom	yes		2	2q35	5077	paired box gene 3	yes	M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C202T	2	GRCh37	CD920899	PAX3	D		.						36.0	34.0	35.0					2																	223161816		2203	4298	6501	222870060	SO:0001583	missense	5077	exon2				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.202C>T	2.37:g.223161816G>A	ENSP00000343052:p.Arg68Trp		222870060	NM_000438	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072190	0.76415	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99680	-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38	5.24	5.24	0.73138	Paired box protein, N-terminal (5);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.97540	4.025	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.997;1.0;0.999;1.0;0.998	D	0.96939	0.9686	10	0.87932	D	0	.	13.0806	0.59112	0.0:0.0:0.7172:0.2828	.	68;68;68;68;68;68;68	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	W	68	ENSP00000375921:R68W;ENSP00000342092:R68W;ENSP00000343052:R68W;ENSP00000375922:R68W;ENSP00000338767:R68W;ENSP00000386750:R68W;ENSP00000386817:R68W;ENSP00000258387:R68W	ENSP00000258387:R68W	R	-	1	2	PAX3	222870060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.745000	0.26259	2.426000	0.82243	0.655000	0.94253	CGG		0.647	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
IRS1	3667	broad.mit.edu	37	2	227662755	227662755	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:227662755C>T	ENST00000305123.5	-	1	1720	c.700G>A	c.(700-702)Ggg>Agg	p.G234R	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	234	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G234R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CAGAACTCCCCGGGCCCCGTC	0.627											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G234R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G700A	2						.						80.0	89.0	86.0					2																	227662755		2203	4300	6503	227370999	SO:0001583	missense	3667	exon1				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.700G>A	2.37:g.227662755C>T	ENSP00000304895:p.Gly234Arg	2321	227370999	NM_005544		Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423628	0.83559	.	.	ENSG00000169047	ENST00000305123	D	0.95518	-3.73	5.79	5.79	0.91817	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (4);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98532	1.0628	10	0.87932	D	0	-35.7946	20.0212	0.97504	0.0:1.0:0.0:0.0	.	234	P35568	IRS1_HUMAN	R	234	ENSP00000304895:G234R	ENSP00000304895:G234R	G	-	1	0	IRS1	227370999	1.000000	0.71417	0.963000	0.40424	0.814000	0.46013	7.818000	0.86416	2.735000	0.93741	0.561000	0.74099	GGG		0.627	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544	
MFF	56947	broad.mit.edu	37	2	228197247	228197247	+	Silent	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:228197247A>G	ENST00000353339.3	+	5	813	c.372A>G	c.(370-372)gaA>gaG	p.E124E	MFF_ENST00000304593.9_Silent_p.E98E|MFF_ENST00000354503.6_Silent_p.E98E|MFF_ENST00000392059.1_Silent_p.E124E|MFF_ENST00000337110.7_Silent_p.E98E|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000409565.1_Silent_p.E98E|MFF_ENST00000409616.1_Silent_p.E98E|MFF_ENST00000349901.7_Silent_p.E98E	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	124					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)	p.E124E(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CGCTGAGTGAAAGACCACTAG	0.393																																					p.E124E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A372G	2						.						256.0	253.0	254.0					2																	228197247		2203	4300	6503	227905491	SO:0001819	synonymous_variant	56947	exon5			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.372A>G	2.37:g.228197247A>G			227905491	NM_020194	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Silent	SNP	ENST00000353339.3	37	CCDS2465.1																																																																																				0.393	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194	
DNER	92737	broad.mit.edu	37	2	230271991	230271991	+	Silent	SNP	G	G	A	rs200801433	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:230271991G>A	ENST00000341772.4	-	10	1814	c.1680C>T	c.(1678-1680)agC>agT	p.S560S		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	560	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.S560S(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCAGGCCGTCGCTGTCACAGG	0.512													G|||	3	0.000599042	0.0	0.0	5008	,	,		19446	0.0		0.0	False		,,,				2504	0.0031				p.S560S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1680T	2						.						140.0	125.0	130.0					2																	230271991		2203	4300	6503	229980235	SO:0001819	synonymous_variant	92737	exon10			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1680C>T	2.37:g.230271991G>A			229980235	NM_139072	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Silent	SNP	ENST00000341772.4	37	CCDS33390.1																																																																																				0.512	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072	
NCL	4691	broad.mit.edu	37	2	232320742	232320742	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:232320742C>T	ENST00000322723.4	-	12	2051	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	604	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.R604Q(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CCCAGTTTCCCGGTCAGTAAC	0.488																																					p.R604Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1811A	2						.						74.0	72.0	72.0					2																	232320742		2203	4300	6503	232028986	SO:0001583	missense	4691	exon12				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1811G>A	2.37:g.232320742C>T	ENSP00000318195:p.Arg604Gln		232028986	NM_005381	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730421	0.69074	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	D;D	0.85629	-1.71;-2.01	5.82	5.82	0.92795	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.095731	0.64402	N	0.000002	D	0.82935	0.5145	L	0.27053	0.805	0.58432	D	0.999991	P	0.52692	0.955	P	0.47786	0.557	D	0.84098	0.0394	10	0.52906	T	0.07	1.4296	19.1392	0.93441	0.0:1.0:0.0:0.0	.	604	P19338	NUCL_HUMAN	Q	604;496;376;229	ENSP00000318195:R604Q;ENSP00000349410:R229Q	ENSP00000318195:R604Q	R	-	2	0	NCL	232028986	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.543000	0.53633	2.766000	0.95052	0.551000	0.68910	CGG		0.488	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381	
EFHD1	80303	broad.mit.edu	37	2	233537103	233537103	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:233537103G>A	ENST00000264059.3	+	3	1012	c.535G>A	c.(535-537)Gat>Aat	p.D179N	EFHD1_ENST00000410095.1_Missense_Mutation_p.D67N|EFHD1_ENST00000409708.1_Missense_Mutation_p.D67N|EFHD1_ENST00000409613.1_Missense_Mutation_p.D83N	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	179					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.D179N(1)		NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		TTCTGAGATCGATGTGGCCCT	0.557																																					p.D179N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G535A	2						.						132.0	129.0	130.0					2																	233537103		2203	4300	6503	233245347	SO:0001583	missense	80303	exon3				CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.535G>A	2.37:g.233537103G>A	ENSP00000264059:p.Asp179Asn		233245347	NM_025202	B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	ENST00000264059.3	37	CCDS2497.1	.	.	.	.	.	.	.	.	.	.	G	5.651	0.304747	0.10678	.	.	ENSG00000115468	ENST00000409613;ENST00000264059;ENST00000540187;ENST00000409708;ENST00000427698;ENST00000410095	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	4.96	-2.98	0.05513	.	0.274240	0.40385	N	0.001120	T	0.36744	0.0978	L	0.38692	1.165	0.41501	D	0.988287	B;B	0.32101	0.015;0.356	B;B	0.29785	0.003;0.107	T	0.03433	-1.1037	10	0.32370	T	0.25	-3.7005	13.2399	0.59992	0.4315:0.0:0.5685:0.0	.	83;179	E9PFH3;Q9BUP0	.;EFHD1_HUMAN	N	83;179;82;67;67;67	ENSP00000386556:D83N;ENSP00000264059:D179N;ENSP00000386243:D67N;ENSP00000401073:D67N;ENSP00000386685:D67N	ENSP00000264059:D179N	D	+	1	0	EFHD1	233245347	0.922000	0.31269	0.000000	0.03702	0.017000	0.09413	1.437000	0.34991	-1.128000	0.02922	-1.134000	0.01955	GAT		0.557	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202	
GIGYF2	26058	broad.mit.edu	37	2	233697779	233697779	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:233697779G>A	ENST00000409547.1	+	24	3053	c.2742G>A	c.(2740-2742)caG>caA	p.Q914Q	GIGYF2_ENST00000373566.3_Silent_p.Q936Q|GIGYF2_ENST00000409480.1_Silent_p.Q936Q|GIGYF2_ENST00000452341.2_Silent_p.Q745Q|GIGYF2_ENST00000409196.3_Silent_p.Q908Q|GIGYF2_ENST00000373563.4_Silent_p.Q914Q|GIGYF2_ENST00000409451.3_Silent_p.Q935Q	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	914	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.Q914Q(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		agcagcagcagcaacaacagc	0.547																																					p.Q908Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2724A	2						.						7.0	9.0	8.0					2																	233697779		2147	4200	6347	233406023	SO:0001819	synonymous_variant	26058	exon21			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.2742G>A	2.37:g.233697779G>A			233406023	NM_001103148	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	CCDS33401.1																																																																																				0.547	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
COLEC11	78989	broad.mit.edu	37	2	3691412	3691412	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:3691412delG	ENST00000349077.4	+	7	623	c.520delG	c.(520-522)gggfs	p.G175fs	COLEC11_ENST00000236693.7_Frame_Shift_Del_p.G172fs|COLEC11_ENST00000382062.2_Frame_Shift_Del_p.G151fs|COLEC11_ENST00000404205.1_Frame_Shift_Del_p.G101fs|COLEC11_ENST00000402922.1_Frame_Shift_Del_p.G125fs|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Frame_Shift_Del_p.G189fs|COLEC11_ENST00000403096.3_Frame_Shift_Del_p.G149fs|COLEC11_ENST00000402794.1_Frame_Shift_Del_p.G125fs	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	175	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.G189fs*3(1)|p.G172fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CCAGGGCCGCGGGGGCACGCT	0.667																																					p.G171fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.511delG	2						.						32.0	34.0	33.0					2																	3691412		2201	4298	6499	3669287	SO:0001589	frameshift_variant	78989	exon8			BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.520delG	2.37:g.3691412delG	ENSP00000339168:p.Gly175fs		3669287	NM_199235	A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Frame_Shift_Del	DEL	ENST00000349077.4	37	CCDS1649.1																																																																																				0.667	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027	
C2orf44	80304	broad.mit.edu	37	2	24261373	24261373	+	Missense_Mutation	SNP	G	G	A	rs201871067	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:24261373G>A	ENST00000295148.4	-	2	1049	c.992C>T	c.(991-993)aCg>aTg	p.T331M	C2orf44_ENST00000406895.3_Missense_Mutation_p.T331M	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	331								p.T331M(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACTTTTCTCGTCATGGTAAC	0.393			T	ALK	NSCLC								G|||	3	0.000599042	0.0008	0.0	5008	,	,		22453	0.0		0.0	False		,,,				2504	0.002				p.T331M			Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C992T	2						.						62.0	58.0	59.0					2																	24261373		2203	4300	6503	24114877	SO:0001583	missense	80304	exon2			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.992C>T	2.37:g.24261373G>A	ENSP00000295148:p.Thr331Met		24114877	NM_025203	D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	CCDS1705.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	13.55	2.270051	0.40194	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.52057	0.68;0.68	5.38	2.54	0.30619	WD40/YVTN repeat-like-containing domain (1);	0.241522	0.48286	D	0.000193	T	0.59715	0.2214	M	0.68593	2.085	0.47621	D	0.999472	D;D	0.89917	1.0;1.0	D;D	0.66847	0.947;0.947	T	0.58053	-0.7704	10	0.87932	D	0	-4.0166	6.861	0.24067	0.0696:0.1291:0.6675:0.1338	.	331;331	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	M	331	ENSP00000295148:T331M;ENSP00000385816:T331M	ENSP00000295148:T331M	T	-	2	0	C2orf44	24114877	1.000000	0.71417	0.002000	0.10522	0.183000	0.23260	3.731000	0.55013	0.321000	0.23259	-0.211000	0.12701	ACG		0.393	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203	
ADCY3	109	broad.mit.edu	37	2	25141365	25141365	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:25141365C>T	ENST00000260600.5	-	1	1343	c.492G>A	c.(490-492)gcG>gcA	p.A164A		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	164					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.A164A(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TGTCACTAGCCGCGTGGGCAC	0.622																																					p.A164A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G492A	2						.						75.0	81.0	79.0					2																	25141365		2203	4300	6503	24994869	SO:0001819	synonymous_variant	109	exon1			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.492G>A	2.37:g.25141365C>T			24994869	NM_004036	B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	CCDS1715.1																																																																																				0.622	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2		
DNMT3A	1788	broad.mit.edu	37	2	25497823	25497823	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:25497823C>T	ENST00000264709.3	-	6	963	c.626G>A	c.(625-627)cGc>cAc	p.R209H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R209H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	209	Interaction with DNMT1 and DNMT3B.				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 involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R209H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTTTCCAGCGTGCCAGCCA	0.642			"""Mis, F, N, S"""		AML																																p.R209H			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G626A	2						.						44.0	43.0	43.0					2																	25497823		2203	4300	6503	25351327	SO:0001583	missense	1788	exon6				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.626G>A	2.37:g.25497823C>T	ENSP00000264709:p.Arg209His		25351327	NM_175629	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441027	0.83993	.	.	ENSG00000119772	ENST00000321117;ENST00000264709	D;D	0.93247	-3.19;-3.19	5.19	5.19	0.71726	.	0.202505	0.30781	N	0.008889	D	0.89712	0.6794	N	0.24115	0.695	0.80722	D	1	D	0.61080	0.989	P	0.45343	0.477	D	0.91157	0.4958	10	0.59425	D	0.04	-8.3274	16.2234	0.82274	0.0:1.0:0.0:0.0	.	209	Q9Y6K1	DNM3A_HUMAN	H	209	ENSP00000324375:R209H;ENSP00000264709:R209H	ENSP00000264709:R209H	R	-	2	0	DNMT3A	25351327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.943000	0.56621	2.428000	0.82296	0.561000	0.74099	CGC		0.642	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	
CAD	790	broad.mit.edu	37	2	27445107	27445107	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:27445107C>A	ENST00000403525.1	+	4	542	c.398C>A	c.(397-399)tCt>tAt	p.S133Y	CAD_ENST00000264705.4_Missense_Mutation_p.S133Y			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.S133Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAACAGGGGTCTCTGCTGGGG	0.527																																					p.S133Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C398A	2						.						78.0	74.0	75.0					2																	27445107		2203	4300	6503	27298611	SO:0001583	missense	790	exon4			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.398C>A	2.37:g.27445107C>A	ENSP00000384510:p.Ser133Tyr		27298611	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	C	24.2	4.510612	0.85389	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.94537	-3.45;-3.45	5.0	5.0	0.66597	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.068089	0.64402	D	0.000013	D	0.96784	0.8950	M	0.81682	2.555	0.48762	D	0.9997	D;P	0.57571	0.98;0.938	P;B	0.61592	0.891;0.382	D	0.97335	0.9953	10	0.87932	D	0	-13.3657	16.124	0.81380	0.0:1.0:0.0:0.0	.	133;133	F8VPD4;P27708	.;PYR1_HUMAN	Y	133	ENSP00000264705:S133Y;ENSP00000384510:S133Y	ENSP00000264705:S133Y	S	+	2	0	CAD	27298611	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.073000	0.76784	2.480000	0.83734	0.491000	0.48974	TCT		0.527	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
CAPN13	92291	broad.mit.edu	37	2	30959385	30959385	+	Missense_Mutation	SNP	C	C	T	rs368618651		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:30959385C>T	ENST00000295055.8	-	18	1882	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H	CAPN13_ENST00000534090.2_Missense_Mutation_p.R569H	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	569	EF-hand 1.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.R569H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GTGAACAAGGCGCTTCCACAG	0.532													c|||	1	0.000199681	0.0	0.0	5008	,	,		20936	0.0		0.0	False		,,,				2504	0.001				p.R569H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1706A	2						.		HIS/ARG	0,4010		0,0,2005	96.0	100.0	98.0		1706	1.6	0.0	2		98	1,8329		0,1,4164	no	missense	CAPN13	NM_144575.2	29	0,1,6169	TT,TC,CC		0.012,0.0,0.0081	benign	569/670	30959385	1,12339	2005	4165	6170	30812889	SO:0001583	missense	92291	exon18				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1706G>A	2.37:g.30959385C>T	ENSP00000295055:p.Arg569His		30812889	NM_144575	Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	c	9.454	1.091258	0.20471	0.0	1.2E-4	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.30714	1.52;1.52	5.04	1.64	0.23874	EF-hand-like domain (1);	0.823271	0.10902	N	0.621490	T	0.24774	0.0601	L	0.52573	1.65	0.09310	N	1	B	0.21071	0.051	B	0.11329	0.006	T	0.31081	-0.9956	10	0.87932	D	0	.	3.782	0.08684	0.0:0.5508:0.199:0.2502	.	569	Q6MZZ7	CAN13_HUMAN	H	569	ENSP00000295055:R569H;ENSP00000431298:R569H	ENSP00000295055:R569H	R	-	2	0	CAPN13	30812889	0.000000	0.05858	0.008000	0.14137	0.017000	0.09413	0.208000	0.17415	0.629000	0.30376	0.546000	0.68486	CGC		0.532	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	
EHD3	30845	broad.mit.edu	37	2	31489460	31489460	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:31489460G>A	ENST00000322054.5	+	6	1783	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	500	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.E500K(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGACGACGACGAGTTTGCACT	0.597																																					p.E500K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1498A	2						.						108.0	97.0	101.0					2																	31489460		2203	4300	6503	31342964	SO:0001583	missense	30845	exon6			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1498G>A	2.37:g.31489460G>A	ENSP00000327116:p.Glu500Lys		31342964	NM_014600	B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261563	0.95368	.	.	ENSG00000013016	ENST00000322054	T	0.60040	0.22	5.55	5.55	0.83447	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86422	0.5929	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91538	0.5247	10	0.87932	D	0	-47.3755	19.4915	0.95052	0.0:0.0:1.0:0.0	.	500	Q9NZN3	EHD3_HUMAN	K	500	ENSP00000327116:E500K	ENSP00000327116:E500K	E	+	1	0	EHD3	31342964	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.869000	0.99810	2.619000	0.88677	0.462000	0.41574	GAG		0.597	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600	
CDC42EP3	10602	broad.mit.edu	37	2	37873218	37873218	+	Silent	SNP	C	C	T	rs544069972	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:37873218C>T	ENST00000295324.3	-	2	1513	c.513G>A	c.(511-513)tcG>tcA	p.S171S	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	171					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)	p.S171S(1)		endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				TGGAGCCCCACGAGGTGTCTC	0.597													c|||	2	0.000399361	0.0015	0.0	5008	,	,		17336	0.0		0.0	False		,,,				2504	0.0				p.S171S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G513A	2						.						72.0	78.0	76.0					2																	37873218		2203	4300	6503	37726722	SO:0001819	synonymous_variant	10602	exon2			AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.513G>A	2.37:g.37873218C>T			37726722	NM_006449	B2R8S0|O95353|Q9UQJ0	Silent	SNP	ENST00000295324.3	37	CCDS1791.1																																																																																				0.597	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449	
NRXN1	9378	broad.mit.edu	37	2	50724784	50724784	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:50724784G>A	ENST00000406316.2	-	14	4042	c.2566C>T	c.(2566-2568)Cgg>Tgg	p.R856W	NRXN1_ENST00000405472.3_Missense_Mutation_p.R848W|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.R896W|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000402717.3_Missense_Mutation_p.R848W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R856W|NRXN1_ENST00000401669.2_Missense_Mutation_p.R856W	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	856	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.R856W(1)|p.R897W(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAAAGATACCGTCGTTCTGTG	0.403																																					p.R896W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2686T	2						.						92.0	85.0	87.0					2																	50724784		1943	4141	6084	50578288	SO:0001583	missense	9378	exon15			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2566C>T	2.37:g.50724784G>A	ENSP00000384311:p.Arg856Trp		50578288	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358195	0.82243	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.97	4.13	0.48395	.	0.000000	0.85682	D	0.000000	D	0.88437	0.6436	M	0.83012	2.62	0.45097	D	0.998113	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.995	D	0.89273	0.3606	10	0.59425	D	0.04	.	15.3392	0.74282	0.0:0.0:0.7447:0.2553	.	896;856;848	Q9ULB1-3;F8WB18;A7E294	.;.;.	W	896;856;848;856;897;848;856	ENSP00000385142:R896W;ENSP00000384311:R856W;ENSP00000434015:R848W;ENSP00000385017:R856W;ENSP00000385434:R848W;ENSP00000385681:R856W	ENSP00000385017:R856W	R	-	1	2	NRXN1	50578288	1.000000	0.71417	0.079000	0.20413	0.990000	0.78478	6.400000	0.73252	0.813000	0.34350	0.561000	0.74099	CGG		0.403	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
PSME4	23198	broad.mit.edu	37	2	54159016	54159016	+	Silent	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:54159016A>G	ENST00000404125.1	-	10	1327	c.1272T>C	c.(1270-1272)ctT>ctC	p.L424L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	424					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.L310L(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCATGAGTGCAAGATTCTGCA	0.443																																					p.L424L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1272C	2						.						83.0	80.0	81.0					2																	54159016		2203	4300	6503	54012520	SO:0001819	synonymous_variant	23198	exon10			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1272T>C	2.37:g.54159016A>G			54012520	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	CCDS33197.2																																																																																				0.443	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	
SMEK2	57223	broad.mit.edu	37	2	55825686	55825686	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:55825686delT	ENST00000345102.5	-	4	1088	c.787delA	c.(787-789)atafs	p.I263fs	SMEK2_ENST00000272313.5_Frame_Shift_Del_p.I263fs|SMEK2_ENST00000407823.3_Frame_Shift_Del_p.I263fs	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	263					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.I263fs*40(1)		kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTCTGATGTATTTTTTGCCTT	0.368																																					p.I263fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.787delA	2						.						104.0	102.0	103.0					2																	55825686		2203	4300	6503	55679190	SO:0001589	frameshift_variant	57223	exon4			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.787delA	2.37:g.55825686delT	ENSP00000339769:p.Ile263fs		55679190	NM_001122964	Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Frame_Shift_Del	DEL	ENST00000345102.5	37	CCDS46289.1																																																																																				0.368	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463	
PAPOLG	64895	broad.mit.edu	37	2	60987381	60987381	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:60987381G>A	ENST00000238714.3	+	2	379	c.130G>A	c.(130-132)Gcc>Acc	p.A44T		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	44					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.A44T(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ATTAATTGACGCCATGAAACC	0.348																																					p.A44T	GBM(183;1497 2932 21839 46797)											.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G130A	2						.						88.0	86.0	87.0					2																	60987381		2203	4300	6503	60840885	SO:0001583	missense	64895	exon2			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.130G>A	2.37:g.60987381G>A	ENSP00000238714:p.Ala44Thr		60840885	NM_022894	B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413785	0.25465	.	.	ENSG00000115421	ENST00000238714	.	.	.	5.74	5.74	0.90152	Poly(A) polymerase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	N	0.05467	-0.045	0.80722	D	1	B	0.23650	0.089	B	0.23150	0.044	T	0.36578	-0.9742	9	0.02654	T	1	-0.8582	19.5165	0.95167	0.0:0.0:1.0:0.0	.	44	Q9BWT3	PAPOG_HUMAN	T	44	.	ENSP00000238714:A44T	A	+	1	0	PAPOLG	60840885	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.605000	0.74155	2.716000	0.92895	0.563000	0.77884	GCC		0.348	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894	
AFTPH	54812	broad.mit.edu	37	2	64819127	64819127	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:64819127G>A	ENST00000422803.1	+	10	3086	c.2772G>A	c.(2770-2772)acG>acA	p.T924T	AFTPH_ENST00000409183.1_Silent_p.T555T|AFTPH_ENST00000238855.7_Silent_p.T923T|AFTPH_ENST00000409933.1_Silent_p.T923T|AFTPH_ENST00000238856.4_Silent_p.T896T			Q6ULP2	AFTIN_HUMAN	aftiphilin	924					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.T896T(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						TCCCAGCCACGTTAACACCTT	0.443																																					p.T896T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2688A	2						.						187.0	166.0	173.0					2																	64819127		2203	4300	6503	64672631	SO:0001819	synonymous_variant	54812	exon9			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.2772G>A	2.37:g.64819127G>A			64672631	NM_017657	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Silent	SNP	ENST00000422803.1	37																																																																																					0.443	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657	
SERTAD2	9792	broad.mit.edu	37	2	64863308	64863308	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:64863308G>A	ENST00000313349.3	-	2	995	c.698C>T	c.(697-699)aCg>aTg	p.T233M	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	233					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.T233M(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						ACCCGTGGACGTCGTTATTTC	0.517																																					p.T233M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C698T	2						.						97.0	92.0	94.0					2																	64863308		2203	4300	6503	64716812	SO:0001583	missense	9792	exon2			D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.698C>T	2.37:g.64863308G>A	ENSP00000326933:p.Thr233Met		64716812	NM_014755	Q53TS2	Missense_Mutation	SNP	ENST00000313349.3	37	CCDS33210.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145917	0.57044	.	.	ENSG00000179833	ENST00000313349	.	.	.	6.08	6.08	0.98989	.	0.095705	0.64402	D	0.000001	T	0.64692	0.2621	L	0.48642	1.525	0.58432	D	0.999996	D	0.63046	0.992	P	0.50791	0.65	T	0.65903	-0.6055	9	0.87932	D	0	-12.262	20.6634	0.99662	0.0:0.0:1.0:0.0	.	233	Q14140	SRTD2_HUMAN	M	233	.	ENSP00000326933:T233M	T	-	2	0	SERTAD2	64716812	1.000000	0.71417	0.860000	0.33809	0.347000	0.29111	6.628000	0.74262	2.894000	0.99253	0.655000	0.94253	ACG		0.517	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755	
SLC1A4	6509	broad.mit.edu	37	2	65243772	65243772	+	Silent	SNP	C	C	T	rs189823702	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:65243772C>T	ENST00000234256.3	+	5	1242	c.999C>T	c.(997-999)ctC>ctT	p.L333L	SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	333					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)	p.L333L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TGGGCCTCCTCGCCCCATTTG	0.473													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19640	0.0		0.001	False		,,,				2504	0.0				p.L333L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C999T	2						.	C	,	1,4405	2.1+/-5.4	0,1,2202	92.0	92.0	92.0		,999	1.0	0.9	2		92	3,8597	2.2+/-6.3	0,3,4297	no	intron,coding-synonymous	SLC1A4	NM_001193493.1,NM_003038.4	,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,	,333/533	65243772	4,13002	2203	4300	6503	65097276	SO:0001819	synonymous_variant	6509	exon5				CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.999C>T	2.37:g.65243772C>T			65097276	NM_003038	B7Z3C0|D6W5F0	Silent	SNP	ENST00000234256.3	37	CCDS1879.1																																																																																				0.473	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038	
ANTXR1	84168	broad.mit.edu	37	2	69300171	69300171	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:69300171G>A	ENST00000303714.4	+	6	752	c.430G>A	c.(430-432)Gtc>Atc	p.V144I	ANTXR1_ENST00000409829.3_Missense_Mutation_p.V144I|ANTXR1_ENST00000409349.3_Missense_Mutation_p.V144I	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	144	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)	p.V144I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GACAGCCAGCGTCATCATTGC	0.483									Familial Infantile Hemangioma																												p.V144I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G430A	2						.						245.0	223.0	231.0					2																	69300171		2203	4300	6503	69153675	SO:0001583	missense	84168	exon6	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.430G>A	2.37:g.69300171G>A	ENSP00000301945:p.Val144Ile		69153675	NM_053034	A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920933	0.52653	.	.	ENSG00000169604	ENST00000303714;ENST00000409829;ENST00000409349	D;D;D	0.85339	-1.97;-1.97;-1.97	6.06	6.06	0.98353	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.89989	0.6875	L	0.53780	1.695	0.51767	D	0.99993	D;B;D;D	0.89917	1.0;0.09;0.983;1.0	D;B;P;D	0.91635	0.999;0.17;0.882;0.996	D	0.85384	0.1121	10	0.14656	T	0.56	-32.7014	18.1147	0.89549	0.0:0.0:1.0:0.0	.	144;144;144;144	Q9H6X2;Q9H6X2-2;Q9H6X2-4;Q9H6X2-3	ANTR1_HUMAN;.;.;.	I	144	ENSP00000301945:V144I;ENSP00000387058:V144I;ENSP00000386494:V144I	ENSP00000301945:V144I	V	+	1	0	ANTXR1	69153675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.175000	0.89684	2.882000	0.98803	0.655000	0.94253	GTC		0.483	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208	
SNRNP27	11017	broad.mit.edu	37	2	70122329	70122329	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:70122329G>A	ENST00000244227.3	+	2	563	c.138G>A	c.(136-138)ccG>ccA	p.P46P	SNRNP27_ENST00000409116.1_Silent_p.P46P	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	46	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P46P(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						CGCGATCCCCGCACCGAAGAC	0.557																																					p.P46P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G138A	2						.						33.0	38.0	36.0					2																	70122329		2203	4300	6503	69975833	SO:0001819	synonymous_variant	11017	exon2			X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.138G>A	2.37:g.70122329G>A			69975833	NM_006857	Q15410	Silent	SNP	ENST00000244227.3	37	CCDS33219.1																																																																																				0.557	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857	
ADD2	119	broad.mit.edu	37	2	70923459	70923459	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:70923459C>T	ENST00000264436.4	-	5	836	c.392G>A	c.(391-393)cGg>cAg	p.R131Q	ADD2_ENST00000413157.2_Missense_Mutation_p.R131Q|ADD2_ENST00000407644.2_Missense_Mutation_p.R131Q|ADD2_ENST00000430656.1_Missense_Mutation_p.R147Q|ADD2_ENST00000355733.3_Missense_Mutation_p.R131Q	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	131					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.R131Q(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCGCATGAGCCGCTCCCCTTT	0.587																																					p.R131Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G392A	2						.						103.0	81.0	89.0					2																	70923459		2203	4300	6503	70776967	SO:0001583	missense	119	exon5			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.392G>A	2.37:g.70923459C>T	ENSP00000264436:p.Arg131Gln		70776967	NM_001185054	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	C	35	5.479243	0.96307	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596;ENST00000413157;ENST00000430656;ENST00000415348;ENST00000425976	T;T;T;T;T;T;T;T	0.36699	1.97;1.97;1.97;1.83;1.97;1.97;1.97;1.24	5.12	4.25	0.50352	Class II aldolase/adducin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	M	0.72118	2.19	0.45554	D	0.998503	D;D;D;D;P;D	0.89917	0.995;0.971;0.999;1.0;0.945;0.999	P;P;D;D;B;D	0.79784	0.838;0.508;0.984;0.941;0.413;0.993	T	0.61292	-0.7092	10	0.87932	D	0	-23.7286	11.6733	0.51415	0.0:0.9139:0.0:0.0861	.	147;131;131;131;131;131	B4DM17;P35612-4;E9PAN1;Q05DK5;P35612;P35612-3	.;.;.;.;ADDB_HUMAN;.	Q	131;131;131;131;131;131;131;131;147;131;131	ENSP00000264436:R131Q;ENSP00000384677:R131Q;ENSP00000347972:R131Q;ENSP00000430243:R131Q;ENSP00000388072:R131Q;ENSP00000398112:R147Q;ENSP00000412357:R131Q;ENSP00000412681:R131Q	ENSP00000264436:R131Q	R	-	2	0	ADD2	70776967	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.476000	0.45171	1.531000	0.49152	0.650000	0.86243	CGG		0.587	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617	
CLEC4F	165530	broad.mit.edu	37	2	71036419	71036419	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:71036419C>A	ENST00000272367.2	-	7	1830	c.1754G>T	c.(1753-1755)tGg>tTg	p.W585L	CLEC4F_ENST00000426626.1_Intron	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	585	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.W585L(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						ACTGAGGATCCAGGGACAGGG	0.547																																					p.W585L	Colon(107;10 2157 6841 26035)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1754T	2						.						70.0	66.0	67.0					2																	71036419		2203	4300	6503	70889927	SO:0001583	missense	165530	exon7			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1754G>T	2.37:g.71036419C>A	ENSP00000272367:p.Trp585Leu		70889927	NM_173535	A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244901	0.22796	.	.	ENSG00000152672	ENST00000272367	T	0.01745	4.66	3.23	-3.32	0.04973	C-type lectin (2);	.	.	.	.	T	0.02156	0.0067	M	0.75777	2.31	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46707	-0.9172	9	0.33940	T	0.23	.	0.495	0.00570	0.3919:0.2316:0.1647:0.2118	.	585	Q8N1N0	CLC4F_HUMAN	L	585	ENSP00000272367:W585L	ENSP00000272367:W585L	W	-	2	0	CLEC4F	70889927	0.000000	0.05858	0.000000	0.03702	0.717000	0.41224	-0.762000	0.04745	-0.878000	0.04007	0.305000	0.20034	TGG		0.547	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535	
CLEC4F	165530	broad.mit.edu	37	2	71043359	71043359	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:71043359delT	ENST00000272367.2	-	4	1230	c.1154delA	c.(1153-1155)aatfs	p.N385fs	CLEC4F_ENST00000426626.1_Frame_Shift_Del_p.N385fs	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	385					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.N385fs*9(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TCTGCTGGCATTTTTCATATG	0.423																																					p.N385fs	Colon(107;10 2157 6841 26035)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1154delA	2						.						121.0	121.0	121.0					2																	71043359		2203	4300	6503	70896867	SO:0001589	frameshift_variant	165530	exon4			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1154delA	2.37:g.71043359delT	ENSP00000272367:p.Asn385fs		70896867	NM_173535	A4QPA5	Frame_Shift_Del	DEL	ENST00000272367.2	37	CCDS1910.1																																																																																				0.423	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535	
DYSF	8291	broad.mit.edu	37	2	71797751	71797751	+	Frame_Shift_Del	DEL	C	C	-	rs368033221		TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:71797751delC	ENST00000258104.3	+	29	3331	c.3054delC	c.(3052-3054)atcfs	p.I1018fs	DYSF_ENST00000409582.3_Frame_Shift_Del_p.I1035fs|DYSF_ENST00000413539.2_Frame_Shift_Del_p.I1049fs|DYSF_ENST00000409744.1_Frame_Shift_Del_p.I1005fs|DYSF_ENST00000410020.3_Frame_Shift_Del_p.I1036fs|DYSF_ENST00000429174.2_Frame_Shift_Del_p.I1018fs|DYSF_ENST00000410041.1_Frame_Shift_Del_p.I1036fs|DYSF_ENST00000409762.1_Frame_Shift_Del_p.I1035fs|DYSF_ENST00000409651.1_Frame_Shift_Del_p.I1050fs|DYSF_ENST00000394120.2_Frame_Shift_Del_p.I1019fs|DYSF_ENST00000409366.1_Frame_Shift_Del_p.I1019fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1018					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.P1020fs*37(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCATCACCATCCCCCCGGAGC	0.632																																					p.I1050fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3150delC	2						.						45.0	46.0	46.0					2																	71797751		2201	4300	6501	71651259	SO:0001589	frameshift_variant	8291	exon30			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3054delC	2.37:g.71797751delC	ENSP00000258104:p.Ile1018fs		71651259	NM_001130982	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Frame_Shift_Del	DEL	ENST00000258104.3	37	CCDS1918.1																																																																																				0.632	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
TET3	200424	broad.mit.edu	37	2	74328943	74328943	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:74328943G>A	ENST00000409262.3	+	9	4623	c.4623G>A	c.(4621-4623)acG>acA	p.T1541T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1541					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.T1541T(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACGCCACCACGCCGCTTAAGA	0.662																																					p.T1541T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4623A	2						.						26.0	31.0	29.0					2																	74328943		2070	4194	6264	74182451	SO:0001819	synonymous_variant	200424	exon9				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4623G>A	2.37:g.74328943G>A			74182451	NM_144993	A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	CCDS46339.1																																																																																				0.662	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
CTNNA2	1496	broad.mit.edu	37	2	80801397	80801397	+	Silent	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:80801397T>C	ENST00000402739.4	+	12	1856	c.1851T>C	c.(1849-1851)taT>taC	p.Y617Y	CTNNA2_ENST00000466387.1_Silent_p.Y617Y|CTNNA2_ENST00000496558.1_Silent_p.Y617Y|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Silent_p.Y296Y|CTNNA2_ENST00000541047.1_Silent_p.Y617Y|CTNNA2_ENST00000361291.4_Silent_p.Y651Y|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000540488.1_Silent_p.Y617Y	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	617					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.D618D(1)|p.Y617Y(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCCTGGTGTATGATGGCGTTC	0.512																																					p.Y618Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1854C	2						.						173.0	165.0	168.0					2																	80801397		2145	4278	6423	80654908	SO:0001819	synonymous_variant	1496	exon13				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.1851T>C	2.37:g.80801397T>C			80654908	NM_004389	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37																																																																																					0.512	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
GGCX	2677	broad.mit.edu	37	2	85780434	85780434	+	Missense_Mutation	SNP	C	C	T	rs200774203		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:85780434C>T	ENST00000233838.4	-	8	1156	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.R302H	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	359					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)	p.R359H(1)		endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	CAGCTGATGGCGCAGCCCTGG	0.577																																					p.R359H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1076A	2						.						72.0	79.0	77.0					2																	85780434		2203	4300	6503	85633945	SO:0001583	missense	2677	exon8				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1076G>A	2.37:g.85780434C>T	ENSP00000233838:p.Arg359His		85633945	NM_000821	B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961787	0.74016	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.92199	-2.99;-2.99	5.64	5.64	0.86602	.	0.233816	0.45606	D	0.000354	D	0.94722	0.8297	L	0.57536	1.79	0.41494	D	0.988243	D;D;D	0.76494	0.998;0.999;0.991	P;D;P	0.63877	0.883;0.919;0.86	D	0.94982	0.8126	10	0.66056	D	0.02	-9.4469	17.1941	0.86887	0.0:1.0:0.0:0.0	.	302;198;359	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	H	359;302	ENSP00000233838:R359H;ENSP00000408045:R302H	ENSP00000233838:R359H	R	-	2	0	GGCX	85633945	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.176000	0.58269	2.657000	0.90304	0.655000	0.94253	CGC		0.577	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821	
POLR1A	25885	broad.mit.edu	37	2	86302212	86302212	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:86302212C>T	ENST00000263857.6	-	12	1930	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	POLR1A_ENST00000409681.1_Missense_Mutation_p.V518M			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	518					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.V518M(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGCTTGGCCACGGCCTCTCGC	0.622																																					p.V518M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1552A	2						.						32.0	36.0	35.0					2																	86302212		2034	4178	6212	86155723	SO:0001583	missense	25885	exon12			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1552G>A	2.37:g.86302212C>T	ENSP00000263857:p.Val518Met		86155723	NM_015425	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554307	0.45487	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.78816	-1.21;-1.21	5.01	5.01	0.66863	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.056432	0.64402	D	0.000001	T	0.81819	0.4903	L	0.47016	1.485	0.53005	D	0.999962	D	0.76494	0.999	D	0.70016	0.967	T	0.80427	-0.1387	10	0.42905	T	0.14	-28.6344	9.8735	0.41189	0.0:0.8726:0.0:0.1274	.	518	O95602	RPA1_HUMAN	M	518	ENSP00000263857:V518M;ENSP00000386300:V518M	ENSP00000263857:V518M	V	-	1	0	POLR1A	86155723	0.993000	0.37304	0.994000	0.49952	0.782000	0.44232	2.797000	0.47877	2.606000	0.88127	0.655000	0.94253	GTG		0.622	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425	
IMMT	10989	broad.mit.edu	37	2	86389194	86389194	+	Silent	SNP	G	G	A	rs189100508	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:86389194G>A	ENST00000410111.3	-	8	1188	c.801C>T	c.(799-801)ggC>ggT	p.G267G	IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000449247.2_Silent_p.G256G|IMMT_ENST00000254636.5_Silent_p.G168G|IMMT_ENST00000442664.2_Silent_p.G266G|Y_RNA_ENST00000363371.1_RNA|IMMT_ENST00000409051.2_Silent_p.G220G	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	267					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.G267G(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATTTCTTCTCGCCTGCAATCT	0.388																																					p.G266G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C798T	2						.						34.0	32.0	32.0					2																	86389194		1876	4115	5991	86242705	SO:0001819	synonymous_variant	10989	exon8			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.801C>T	2.37:g.86389194G>A			86242705	NM_001100169	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Silent	SNP	ENST00000410111.3	37	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	G	3.936	-0.015264	0.07681	.	.	ENSG00000132305	ENST00000419070	.	.	.	5.24	1.45	0.22620	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.1395	6.092	0.19999	0.607:0.2527:0.1403:0.0	.	.	.	.	X	122	.	.	R	-	1	2	IMMT	86242705	0.817000	0.29147	0.997000	0.53966	0.552000	0.35366	-0.129000	0.10515	0.013000	0.14918	-1.650000	0.00758	CGA		0.388	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839	
RNF103	7844	broad.mit.edu	37	2	86849812	86849814	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:86849812_86849814delCTT	ENST00000237455.4	-	1	1164_1166	c.196_198delAAG	c.(196-198)aagdel	p.K66del	CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	66					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K66delK(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CCCGGACATCCTTCTTCTCGGGC	0.616																																					p.66_66del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.196_198del	2						.																																			86703325	SO:0001651	inframe_deletion	7844	exon1			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.196_198delAAG	2.37:g.86849815_86849817delCTT	ENSP00000237455:p.Lys66del		86703323	NM_001198952	A6NFV6|B2RAG4|Q53SU6|Q8IVB9	In_Frame_Del	DEL	ENST00000237455.4	37	CCDS33237.1																																																																																				0.616	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667	
SNRNP200	23020	broad.mit.edu	37	2	96952566	96952566	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:96952566C>A	ENST00000323853.5	-	28	3766	c.3689G>T	c.(3688-3690)aGc>aTc	p.S1230I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1230	SEC63 1.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.S1230I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AATCACCTCGCTGTCCACATC	0.517																																					p.S1230I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3689T	2						.						123.0	125.0	125.0					2																	96952566		2203	4300	6503	96316293	SO:0001583	missense	23020	exon28			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.3689G>T	2.37:g.96952566C>A	ENSP00000317123:p.Ser1230Ile		96316293	NM_014014	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287038	0.80803	.	.	ENSG00000144028	ENST00000323853	T	0.61980	0.06	4.75	4.75	0.60458	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.78078	0.4227	M	0.88775	2.98	0.80722	D	1	P	0.48230	0.907	P	0.53266	0.722	D	0.83503	0.0076	10	0.87932	D	0	-13.2815	16.6715	0.85268	0.0:1.0:0.0:0.0	.	1230	O75643	U520_HUMAN	I	1230	ENSP00000317123:S1230I	ENSP00000317123:S1230I	S	-	2	0	SNRNP200	96316293	1.000000	0.71417	0.963000	0.40424	0.929000	0.56500	5.796000	0.69080	2.477000	0.83638	0.455000	0.32223	AGC		0.517	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
ACTR1B	10120	broad.mit.edu	37	2	98275431	98275431	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:98275431C>T	ENST00000289228.5	-	5	567	c.351G>A	c.(349-351)ccG>ccA	p.P117P		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	117					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.P117P(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						GGTTCTTACTCGGGTTGAGCG	0.587																																					p.P117P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G351A	2						.						104.0	114.0	111.0					2																	98275431		2203	4300	6503	97641863	SO:0001819	synonymous_variant	10120	exon5			X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.351G>A	2.37:g.98275431C>T			97641863	NM_005735	D3DVH2|Q53SK5|Q9BRB7	Silent	SNP	ENST00000289228.5	37	CCDS2033.1																																																																																				0.587	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735	
DNER	92737	broad.mit.edu	37	2	230456430	230456430	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:230456430delG	ENST00000341772.4	-	2	585	c.451delC	c.(451-453)cgafs	p.R151fs		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	151					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.R151fs*23(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGAAGCTGTCGGGGTGCCATG	0.572																																					p.R151fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.451delC	2						.						78.0	64.0	69.0					2																	230456430		2203	4300	6503	230164674	SO:0001589	frameshift_variant	92737	exon2			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.451delC	2.37:g.230456430delG	ENSP00000345229:p.Arg151fs		230164674	NM_139072	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Frame_Shift_Del	DEL	ENST00000341772.4	37	CCDS33390.1																																																																																				0.572	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072	
INPP5D	3635	broad.mit.edu	37	2	234072413	234072413	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr2:234072413C>T	ENST00000359570.5	+	14	1265	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	INPP5D_ENST00000450745.1_Missense_Mutation_p.T186M|INPP5D_ENST00000538935.1_Missense_Mutation_p.T421M|INPP5D_ENST00000455936.2_Missense_Mutation_p.T186M			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	434					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.T434M(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CAGGGAAAGACGCGGGACGAC	0.562																																					p.R276C	NSCLC(82;1215 1426 16163 20348 41018)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C826T	2						.						145.0	151.0	149.0					2																	234072413		2048	4176	6224	233736485	SO:0001583	missense	3635	exon7			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1265C>T	2.37:g.234072413C>T	ENSP00000352575:p.Thr422Met		233736485	NM_005541	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37		.	.	.	.	.	.	.	.	.	.	C	25.4	4.632814	0.87660	.	.	ENSG00000168918	ENST00000359570;ENST00000538935;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D;D	0.97114	-4.23;-4.15;-4.25;-4.25;-4.22;-4.22;-4.22	5.08	5.08	0.68730	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.090226	0.64402	D	0.000002	D	0.98504	0.9501	.	.	.	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.989	D	0.99529	1.0960	9	0.87932	D	0	.	18.6649	0.91486	0.0:1.0:0.0:0.0	.	433;434	Q92835-2;Q92835	.;SHIP1_HUMAN	M	422;421;186;186;55;55;55	ENSP00000352575:T422M;ENSP00000441010:T421M;ENSP00000407916:T186M;ENSP00000404610:T186M;ENSP00000400151:T55M;ENSP00000397421:T55M;ENSP00000405338:T55M	ENSP00000352575:T422M	T	+	2	0	INPP5D	233736485	1.000000	0.71417	0.982000	0.44146	0.860000	0.49131	7.275000	0.78548	2.652000	0.90054	0.655000	0.94253	ACG		0.562	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915	
GABBR2	9568	broad.mit.edu	37	9	101216264	101216264	+	Splice_Site	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:101216264G>A	ENST00000259455.2	-	7	1694	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	412					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.T412M(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGGACTGACCGTGACCCCGAA	0.517																																					p.T412M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1235T	9						.						172.0	152.0	159.0					9																	101216264		2203	4300	6503	100256085	SO:0001630	splice_region_variant	9568	exon7			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1236+1C>T	9.37:g.101216264G>A			100256085	NM_005458	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948118	0.92593	.	.	ENSG00000136928	ENST00000259455	D	0.86097	-2.07	5.79	5.79	0.91817	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92492	0.7616	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92893	0.6333	10	0.87932	D	0	.	17.5351	0.87827	0.0:0.0:1.0:0.0	.	412	O75899	GABR2_HUMAN	M	412	ENSP00000259455:T412M	ENSP00000259455:T412M	T	-	2	0	GABBR2	100256085	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.751000	0.94390	0.650000	0.86243	ACG		0.517	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		Missense_Mutation
GABBR2	9568	broad.mit.edu	37	9	101304306	101304306	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:101304306G>A	ENST00000259455.2	-	3	938	c.479C>T	c.(478-480)aCg>aTg	p.T160M	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	160					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.T160M(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TAGAACAGGCGTGGTTGCAGC	0.448																																					p.T160M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C479T	9						.						55.0	51.0	52.0					9																	101304306		2203	4300	6503	100344127	SO:0001583	missense	9568	exon3			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.479C>T	9.37:g.101304306G>A	ENSP00000259455:p.Thr160Met		100344127	NM_005458	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522906	0.85600	.	.	ENSG00000136928	ENST00000259455	D	0.82803	-1.65	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.109676	0.64402	D	0.000009	D	0.88108	0.6348	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88720	0.3229	10	0.62326	D	0.03	.	16.6427	0.85130	0.0:0.0:1.0:0.0	.	160	O75899	GABR2_HUMAN	M	160	ENSP00000259455:T160M	ENSP00000259455:T160M	T	-	2	0	GABBR2	100344127	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	7.841000	0.86834	2.538000	0.85594	0.655000	0.94253	ACG		0.448	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		
ANKS6	203286	broad.mit.edu	37	9	101552642	101552642	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:101552642C>T	ENST00000353234.4	-	2	653	c.606G>A	c.(604-606)ggG>ggA	p.G202G	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000375018.1_Silent_p.G202G|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000540940.1_Silent_p.G7G			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	202						cilium (GO:0005929)|cytoplasm (GO:0005737)		p.G202G(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CGGCCTCGTGCCCGTGCTGGA	0.672																																					p.G202G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G606A	9						.						31.0	36.0	34.0					9																	101552642		2100	4200	6300	100592463	SO:0001819	synonymous_variant	203286	exon2			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.606G>A	9.37:g.101552642C>T			100592463	NM_173551	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	CCDS43856.1																																																																																				0.672	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551	
TGFBR1	7046	broad.mit.edu	37	9	101894949	101894949	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:101894949C>T	ENST00000374994.4	+	3	619	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	TGFBR1_ENST00000552516.1_Missense_Mutation_p.R172C|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R99C|TGFBR1_ENST00000374990.2_Intron	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	168					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.R168C(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)				TTCATTAGATCGCCCTTTTAT	0.423																																					p.R168C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C502T	9						.						141.0	121.0	128.0					9																	101894949		2203	4300	6503	100934770	SO:0001583	missense	7046	exon3				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.502C>T	9.37:g.101894949C>T	ENSP00000364133:p.Arg168Cys		100934770	NM_004612	Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774791	0.70107	.	.	ENSG00000106799	ENST00000547314;ENST00000552573;ENST00000374994;ENST00000540092;ENST00000552516;ENST00000548365;ENST00000550253;ENST00000546584	T;T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07;0.07	6.02	6.02	0.97574	.	0.090608	0.85682	D	0.000000	T	0.46718	0.1407	N	0.19112	0.55	0.80722	D	1	B	0.12630	0.006	B	0.01281	0.0	T	0.25012	-1.0144	10	0.38643	T	0.18	.	19.3122	0.94192	0.0:1.0:0.0:0.0	.	168	P36897	TGFR1_HUMAN	C	99;103;168;168;172;103;99;165	ENSP00000449934:R99C;ENSP00000447182:R103C;ENSP00000364133:R168C;ENSP00000447297:R172C;ENSP00000448518:R103C;ENSP00000450052:R99C;ENSP00000447707:R165C	ENSP00000364133:R168C	R	+	1	0	TGFBR1	100934770	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.059000	0.71133	2.865000	0.98341	0.655000	0.94253	CGC		0.423	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3		
TEX10	54881	broad.mit.edu	37	9	103102585	103102585	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:103102585C>T	ENST00000374902.4	-	5	1380	c.1204G>A	c.(1204-1206)Gtc>Atc	p.V402I	TEX10_ENST00000535814.1_Missense_Mutation_p.V405I|TEX10_ENST00000537512.1_Missense_Mutation_p.V337I	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	402						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.V402I(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TCTTTTAAGACATATGGAAAA	0.299																																					p.V402I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1204A	9						.						172.0	188.0	183.0					9																	103102585		2203	4297	6500	102142406	SO:0001583	missense	54881	exon5			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1204G>A	9.37:g.103102585C>T	ENSP00000364037:p.Val402Ile		102142406	NM_017746	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542697	0.45280	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000429235;ENST00000537512	T;T;T	0.63580	-0.05;-0.05;-0.05	5.45	0.962	0.19643	Armadillo-type fold (1);	0.614083	0.17975	N	0.155732	T	0.34832	0.0911	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.13145	0.003;0.0;0.007;0.007;0.0	B;B;B;B;B	0.09377	0.004;0.0;0.001;0.002;0.0	T	0.19484	-1.0304	10	0.54805	T	0.06	0.7652	4.3783	0.11281	0.4751:0.3357:0.0:0.1892	.	337;405;270;270;402	B7Z9D5;B4DYV2;E7ERG2;B4DQR0;Q9NXF1	.;.;.;.;TEX10_HUMAN	I	405;402;270;47;337	ENSP00000444555:V405I;ENSP00000364037:V402I;ENSP00000438120:V337I	ENSP00000364037:V402I	V	-	1	0	TEX10	102142406	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.874000	0.39568	0.633000	0.30452	0.591000	0.81541	GTC		0.299	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746	
MURC	347273	broad.mit.edu	37	9	103340481	103340481	+	Missense_Mutation	SNP	C	C	T	rs375508129		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:103340481C>T	ENST00000307584.5	+	1	121	c.56C>T	c.(55-57)tCg>tTg	p.S19L	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	19					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.S19L(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AATCGCCTGTCGAGTGTTACA	0.443																																					p.S19L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C56T	9						.	C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	115.0	106.0	109.0		56	5.4	0.8	9		109	0,8600		0,0,4300	no	missense	MURC	NM_001018116.1	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	19/365	103340481	1,13005	2203	4300	6503	102380302	SO:0001583	missense	347273	exon1			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.56C>T	9.37:g.103340481C>T	ENSP00000418668:p.Ser19Leu		102380302	NM_001018116	B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277212	0.59758	2.27E-4	0.0	ENSG00000170681	ENST00000307584	T	0.69306	-0.39	5.39	5.39	0.77823	.	0.206543	0.33253	N	0.005111	T	0.77418	0.4127	L	0.47716	1.5	0.44227	D	0.997065	D	0.89917	1.0	D	0.81914	0.995	T	0.79060	-0.1958	10	0.72032	D	0.01	-4.5535	16.6642	0.85248	0.0:1.0:0.0:0.0	.	19	Q5BKX8	MURC_HUMAN	L	19	ENSP00000418668:S19L	ENSP00000418668:S19L	S	+	2	0	MURC	102380302	1.000000	0.71417	0.810000	0.32431	0.786000	0.44442	6.162000	0.71874	2.532000	0.85374	0.655000	0.94253	TCG		0.443	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116	
GRIN3A	116443	broad.mit.edu	37	9	104375771	104375771	+	Missense_Mutation	SNP	C	C	T	rs372945887		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:104375771C>T	ENST00000361820.3	-	6	3253	c.2653G>A	c.(2653-2655)Gcc>Acc	p.A885T	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	885					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.A885T(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GATATGTTGGCGGTCAATGGA	0.463																																					p.A885T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2653A	9						.						185.0	151.0	162.0					9																	104375771		2203	4300	6503	103415592	SO:0001583	missense	116443	exon6				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2653G>A	9.37:g.104375771C>T	ENSP00000355155:p.Ala885Thr		103415592	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.860851	0.91433	.	.	ENSG00000198785	ENST00000361820	T	0.50548	0.74	5.14	5.14	0.70334	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	N	0.05124	-0.11	0.20638	N	0.999872	B	0.16603	0.018	B	0.17098	0.017	T	0.17319	-1.0373	10	0.41790	T	0.15	.	12.5244	0.56077	0.8602:0.1398:0.0:0.0	.	885	Q8TCU5	NMD3A_HUMAN	T	885	ENSP00000355155:A885T	ENSP00000355155:A885T	A	-	1	0	GRIN3A	103415592	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.869000	0.69613	0.898000	0.36418	-0.256000	0.11100	GCC		0.463	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
OR13C3	138803	broad.mit.edu	37	9	107298552	107298552	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:107298552G>A	ENST00000374781.2	-	1	585	c.543C>T	c.(541-543)tcC>tcT	p.S181S		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S181S(1)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTATTCCACCGGACAGCCAGG	0.448																																					p.S181S	GBM(86;1248 1274 14222 15028 46219)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C543T	9						.						156.0	153.0	154.0					9																	107298552		2203	4300	6503	106338373	SO:0001819	synonymous_variant	138803	exon1				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.543C>T	9.37:g.107298552G>A			106338373	NM_001001961	Q5VVG1|Q6IF52	Silent	SNP	ENST00000374781.2	37	CCDS35089.1																																																																																				0.448	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2		
ABCA1	19	broad.mit.edu	37	9	107581921	107581921	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:107581921C>T	ENST00000374736.3	-	22	3581	c.3187G>A	c.(3187-3189)Gtg>Atg	p.V1063M		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1063	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.V1063M(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TAAGGGTCCACACCAGCTGTG	0.498																																					p.V1063M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3187A	9						.						112.0	115.0	114.0					9																	107581921		2203	4300	6503	106621742	SO:0001583	missense	19	exon22			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3187G>A	9.37:g.107581921C>T	ENSP00000363868:p.Val1063Met		106621742	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235792	0.95240	.	.	ENSG00000165029	ENST00000374736	T	0.80393	-1.37	6.03	6.03	0.97812	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.81992	0.4940	N	0.11154	0.105	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	D	0.85292	0.1068	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1063	O95477	ABCA1_HUMAN	M	1063	ENSP00000363868:V1063M	ENSP00000363868:V1063M	V	-	1	0	ABCA1	106621742	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GTG		0.498	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
SVEP1	79987	broad.mit.edu	37	9	113251998	113251998	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:113251998G>A	ENST00000401783.2	-	9	2198	c.1862C>T	c.(1861-1863)gCt>gTt	p.A621V	SVEP1_ENST00000374469.1_Missense_Mutation_p.A598V|SVEP1_ENST00000374461.1_Missense_Mutation_p.A598V|SVEP1_ENST00000302728.8_Missense_Mutation_p.A621V|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	621	HYR 1. {ECO:0000255|PROSITE- ProRule:PRU00113}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.A621V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTATACGATAGCAACATCTCC	0.428																																					p.A621V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1862T	9						.						141.0	137.0	139.0					9																	113251998		1944	4149	6093	112291819	SO:0001583	missense	79987	exon9			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1862C>T	9.37:g.113251998G>A	ENSP00000384917:p.Ala621Val		112291819	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	5.504	0.277970	0.10403	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	4.85	2.99	0.34606	Hyalin (2);	0.346678	0.31834	N	0.006986	T	0.10766	0.0263	N	0.13140	0.3	0.26413	N	0.976226	B;B;B	0.20550	0.046;0.012;0.01	B;B;B	0.23275	0.045;0.016;0.011	T	0.22173	-1.0224	10	0.27785	T	0.31	.	6.9413	0.24494	0.1548:0.0:0.7042:0.141	.	621;621;621	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	V	621;598;621;598	ENSP00000384917:A621V;ENSP00000363593:A598V;ENSP00000304118:A621V;ENSP00000363585:A598V	ENSP00000304118:A621V	A	-	2	0	SVEP1	112291819	0.974000	0.33945	0.985000	0.45067	0.840000	0.47671	1.805000	0.38883	1.048000	0.40298	0.563000	0.77884	GCT		0.428	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
MUSK	4593	broad.mit.edu	37	9	113496569	113496569	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:113496569G>A	ENST00000374448.4	+	6	801	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	MUSK_ENST00000189978.5_Missense_Mutation_p.V223I|MUSK_ENST00000416899.2_Missense_Mutation_p.V223I	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	223	Ig-like 3.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V223I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATCCCACAATGTCACCTTTGG	0.522																																					p.V233I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G697A	9						.						102.0	95.0	98.0					9																	113496569		2010	4182	6192	112536390	SO:0001583	missense	4593	exon7			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.667G>A	9.37:g.113496569G>A	ENSP00000363571:p.Val223Ile		112536390	NM_001166280	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942621	0.34283	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.14391	2.51	5.18	5.18	0.71444	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.193381	0.44902	D	0.000407	T	0.18923	0.0454	L	0.58302	1.8	0.80722	D	1	B;B	0.31435	0.001;0.323	B;B	0.38056	0.014;0.264	T	0.03795	-1.1003	10	0.15066	T	0.55	.	16.5633	0.84572	0.0:0.0:1.0:0.0	.	223;233	O15146;F5H6T2	MUSK_HUMAN;.	I	223;223;223;233;233;223	ENSP00000363571:V223I	ENSP00000189978:V223I	V	+	1	0	MUSK	112536390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.206000	0.58473	2.576000	0.86940	0.655000	0.94253	GTC		0.522	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
ALAD	210	broad.mit.edu	37	9	116152053	116152053	+	Splice_Site	SNP	C	C	T	rs201127458		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:116152053C>T	ENST00000409155.3	-	8	822	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	ALAD_ENST00000277315.5_Splice_Site_p.R192Q|ALAD_ENST00000482001.1_5'Flank	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	209					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)	p.R238Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	CCCTGCTCACCGGAAAGGGCC	0.562																																					p.R209Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G626A	9						.						78.0	65.0	70.0					9																	116152053		2203	4300	6503	115191874	SO:0001630	splice_region_variant	210	exon8			M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"""porphobilinogen synthase"""	125270	"""aminolevulinate, delta-, dehydratase"""			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.626+1G>A	9.37:g.116152053C>T			115191874	NM_000031	A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	ENST00000409155.3	37	CCDS6794.2	.	.	.	.	.	.	.	.	.	.	C	34	5.308064	0.95629	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.92348	-3.02;-3.02	5.41	5.41	0.78517	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.97929	0.9319	H	0.99058	4.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.987;0.988	D	0.99624	1.0984	9	.	.	.	-8.4921	17.7737	0.88501	0.0:1.0:0.0:0.0	.	209;192;238	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	Q	209;192	ENSP00000386284:R209Q;ENSP00000277315:R192Q	.	R	-	2	0	ALAD	115191874	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.667000	0.68067	2.524000	0.85096	0.655000	0.94253	CGG		0.562	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945	Missense_Mutation
PAPPA	5069	broad.mit.edu	37	9	118989819	118989819	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:118989819C>T	ENST00000328252.3	+	6	2590	c.2221C>T	c.(2221-2223)Cgt>Tgt	p.R741C	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	741					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R741C(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGGAGCCCTCGTGAAGCAGA	0.493																																					p.R741C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2221T	9						.						83.0	70.0	74.0					9																	118989819		2203	4300	6503	118029640	SO:0001583	missense	5069	exon6				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2221C>T	9.37:g.118989819C>T	ENSP00000330658:p.Arg741Cys		118029640	NM_002581	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106222	0.77096	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.02032	4.49	5.85	4.93	0.64822	.	0.055211	0.64402	D	0.000001	T	0.09949	0.0244	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.61940	0.896;0.863	T	0.00088	-1.2091	10	0.87932	D	0	-22.9407	14.0767	0.64893	0.2702:0.7298:0.0:0.0	.	185;741	E7EMD3;Q13219	.;PAPP1_HUMAN	C	741;185	ENSP00000330658:R741C	ENSP00000330658:R741C	R	+	1	0	PAPPA	118029640	0.903000	0.30736	1.000000	0.80357	0.956000	0.61745	1.815000	0.38981	2.764000	0.94973	0.591000	0.81541	CGT		0.493	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
ASTN2	23245	broad.mit.edu	37	9	119413828	119413828	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:119413828G>A	ENST00000313400.4	-	17	3151	c.3051C>T	c.(3049-3051)atC>atT	p.I1017I	ASTN2_ENST00000361477.3_Silent_p.I69I|ASTN2_ENST00000373996.3_Silent_p.I1013I|ASTN2_ENST00000288520.5_Silent_p.I118I|ASTN2_ENST00000341734.4_Silent_p.I69I|ASTN2_ENST00000361209.2_Silent_p.I966I|ASTN2_ENST00000358637.4_Silent_p.I69I			O75129	ASTN2_HUMAN	astrotactin 2	1017					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.I966I(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CATTGTCTTGGATGAGGGTAT	0.582																																					p.I118I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C354T	9						.						75.0	61.0	66.0					9																	119413828		2203	4300	6503	118453649	SO:0001819	synonymous_variant	23245	exon2			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3051C>T	9.37:g.119413828G>A			118453649	NM_198186	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37																																																																																					0.582	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
OR5C1	392391	broad.mit.edu	37	9	125551916	125551916	+	Silent	SNP	C	C	T	rs374636365		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:125551916C>T	ENST00000373680.2	+	1	767	c.705C>T	c.(703-705)gtC>gtT	p.V235V		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V235V(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						TGCGCTCGGTCGAGGGCAGTC	0.592																																					p.V235V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C705T	9						.	C		0,4406		0,0,2203	73.0	68.0	69.0		705	-10.9	0.0	9		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR5C1	NM_001001923.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		235/321	125551916	1,13005	2203	4300	6503	124591737	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.705C>T	9.37:g.125551916C>T			124591737	NM_001001923	B2RN54|B9EGT0|Q96RC4	Silent	SNP	ENST00000373680.2	37	CCDS35131.1																																																																																				0.592	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1		
DENND1A	57706	broad.mit.edu	37	9	126143789	126143789	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:126143789G>A	ENST00000373624.2	-	22	3153	c.2952C>T	c.(2950-2952)gaC>gaT	p.D984D	DENND1A_ENST00000542603.1_Silent_p.D769D|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.D995D	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	984	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D984D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TCGGGCTCACGTCTTGCTTGG	0.647																																					p.D984D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2952T	9						.						44.0	55.0	52.0					9																	126143789		2203	4300	6503	125183610	SO:0001819	synonymous_variant	57706	exon22			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2952C>T	9.37:g.126143789G>A			125183610	NM_020946	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	CCDS35133.1																																																																																				0.647	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820	
OLFML2A	169611	broad.mit.edu	37	9	127549371	127549371	+	Missense_Mutation	SNP	C	C	T	rs371169223		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:127549371C>T	ENST00000373580.3	+	2	208	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	70					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.R70C(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGGGCGGGCACGCGTGGAGGA	0.647																																					p.R70C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C208T	9						.	C	CYS/ARG	0,4340		0,0,2170	51.0	58.0	56.0		208	2.5	0.5	9		56	1,8545		0,1,4272	no	missense	OLFML2A	NM_182487.2	180	0,1,6442	TT,TC,CC		0.0117,0.0,0.0078	probably-damaging	70/653	127549371	1,12885	2170	4273	6443	126589192	SO:0001583	missense	169611	exon2			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.208C>T	9.37:g.127549371C>T	ENSP00000362682:p.Arg70Cys		126589192	NM_182487	Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198759	0.58126	0.0	1.17E-4	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.43294	0.95;0.95	5.73	2.51	0.30379	.	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.961	T	0.68565	-0.5375	10	0.87932	D	0	.	14.635	0.68682	0.41:0.59:0.0:0.0	.	70;70	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	C	70	ENSP00000336425:R70C;ENSP00000362682:R70C	ENSP00000336425:R70C	R	+	1	0	OLFML2A	126589192	0.251000	0.23961	0.509000	0.27700	0.384000	0.30261	1.002000	0.29796	0.715000	0.32103	0.655000	0.94253	CGC		0.647	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487	
SLC2A8	29988	broad.mit.edu	37	9	130167206	130167206	+	Missense_Mutation	SNP	G	G	T	rs374084827		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:130167206G>T	ENST00000373371.3	+	8	1175	c.1086G>T	c.(1084-1086)caG>caT	p.Q362H	SLC2A8_ENST00000373360.3_Missense_Mutation_p.Q362H|SLC2A8_ENST00000373352.1_Missense_Mutation_p.Q99H|SLC2A8_ENST00000485806.1_3'UTR	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	362					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)	p.Q362H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						TCTCTGCACAGCCTGTTGATG	0.672																																					p.Q362H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1086T	9						.						65.0	63.0	64.0					9																	130167206		2203	4299	6502	129207027	SO:0001583	missense	29988	exon8			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1086G>T	9.37:g.130167206G>T	ENSP00000362469:p.Gln362His		129207027	NM_014580	Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	37	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	G	9.510	1.105526	0.20632	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000373352;ENST00000373360;ENST00000439597;ENST00000423934;ENST00000373350;ENST00000430147	D;T;D;T;D;T;T	0.88664	-1.65;-1.46;-2.41;0.3;-2.37;-1.35;-1.29	5.43	1.51	0.23008	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.123265	0.35040	N	0.003481	T	0.79329	0.4427	N	0.24115	0.695	0.09310	N	1	B;P	0.34815	0.291;0.47	B;B	0.38428	0.087;0.273	T	0.68857	-0.5298	10	0.42905	T	0.14	.	5.3497	0.16028	0.3134:0.1387:0.548:0.0	.	362;362	Q5VVV9;Q9NY64	.;GTR8_HUMAN	H	362;199;99;362;201;227;227;201	ENSP00000362469:Q362H;ENSP00000392434:Q199H;ENSP00000362450:Q99H;ENSP00000362458:Q362H;ENSP00000404893:Q201H;ENSP00000389070:Q227H;ENSP00000391213:Q201H	ENSP00000362448:Q227H	Q	+	3	2	SLC2A8	129207027	0.131000	0.22433	0.037000	0.18230	0.010000	0.07245	0.926000	0.28804	0.359000	0.24239	-0.136000	0.14681	CAG		0.672	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580	
STXBP1	6812	broad.mit.edu	37	9	130427603	130427603	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:130427603T>C	ENST00000373299.1	+	8	771	c.656T>C	c.(655-657)aTg>aCg	p.M219T	STXBP1_ENST00000373302.3_Missense_Mutation_p.M219T	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	219					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)	p.M219T(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GATCCAACAATGGGGGAGGTA	0.522																																					p.M219T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T656C	9						.						174.0	136.0	149.0					9																	130427603		2203	4300	6503	129467424	SO:0001583	missense	6812	exon8			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.656T>C	9.37:g.130427603T>C	ENSP00000362396:p.Met219Thr		129467424	NM_003165	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.712786	0.68730	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	T;T	0.79940	-1.32;-1.32	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.89928	0.6857	M	0.87758	2.905	0.80722	D	1	D;D	0.64830	0.994;0.993	D;D	0.66979	0.948;0.913	D	0.91594	0.5289	10	0.87932	D	0	-12.8952	13.2805	0.60212	0.0:0.0:0.0:1.0	.	219;219	P61764;P61764-2	STXB1_HUMAN;.	T	173;219;219	ENSP00000362399:M219T;ENSP00000362396:M219T	ENSP00000362396:M219T	M	+	2	0	STXBP1	129467424	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	7.491000	0.81471	2.031000	0.59945	0.459000	0.35465	ATG		0.522	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165	
NAIF1	203245	broad.mit.edu	37	9	130825918	130825918	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:130825918C>T	ENST00000373078.4	-	2	992	c.773G>A	c.(772-774)cGc>cAc	p.R258H	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	258					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R258H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTGGGAGCGGCGGATCATCTG	0.637																																					p.R258H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G773A	9						.						98.0	86.0	90.0					9																	130825918		2203	4300	6503	129865739	SO:0001583	missense	203245	exon2			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.773G>A	9.37:g.130825918C>T	ENSP00000362170:p.Arg258His		129865739	NM_197956	B3KV81|Q8WU12	Missense_Mutation	SNP	ENST00000373078.4	37	CCDS6889.1	.	.	.	.	.	.	.	.	.	.	C	35	5.484791	0.96323	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.70949	-0.4733	9	0.87932	D	0	-2.6944	17.8545	0.88759	0.0:1.0:0.0:0.0	.	258	Q69YI7	NAIF1_HUMAN	H	258	.	ENSP00000362170:R258H	R	-	2	0	NAIF1	129865739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.298000	0.78815	2.452000	0.82932	0.563000	0.77884	CGC		0.637	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956	
TRUB2	26995	broad.mit.edu	37	9	131083986	131083986	+	Missense_Mutation	SNP	C	C	T	rs545026119	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:131083986C>T	ENST00000372890.4	-	2	466	c.133G>A	c.(133-135)Gct>Act	p.A45T	TRUB2_ENST00000460320.1_5'UTR|COQ4_ENST00000372875.3_5'Flank|COQ4_ENST00000609948.1_5'Flank|COQ4_ENST00000608951.1_5'Flank|TRUB2_ENST00000546104.1_5'UTR|COQ4_ENST00000300452.3_5'Flank	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	45					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.A45T(1)		kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						TGTTTAGGAGCGGGAGGCTTC	0.463																																					p.A45T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	9						.						87.0	71.0	77.0					9																	131083986		2203	4300	6503	130123807	SO:0001583	missense	26995	exon2			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.133G>A	9.37:g.131083986C>T	ENSP00000361982:p.Ala45Thr		130123807	NM_015679	B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471734	0.43942	.	.	ENSG00000167112	ENST00000372890	T	0.18174	2.23	5.83	3.68	0.42216	Pseudouridine synthase, catalytic domain (1);	0.313958	0.34959	N	0.003545	T	0.13670	0.0331	L	0.49455	1.56	0.25881	N	0.983598	B	0.26902	0.163	B	0.16289	0.015	T	0.13764	-1.0497	10	0.46703	T	0.11	-12.2338	6.4321	0.21803	0.0:0.6629:0.156:0.1811	.	45	O95900	TRUB2_HUMAN	T	45	ENSP00000361982:A45T	ENSP00000361982:A45T	A	-	1	0	TRUB2	130123807	0.368000	0.25031	0.688000	0.30117	0.932000	0.56968	0.175000	0.16762	1.477000	0.48234	0.563000	0.77884	GCT		0.463	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679	
LRRC8A	56262	broad.mit.edu	37	9	131678487	131678487	+	Missense_Mutation	SNP	C	C	T	rs557710052	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:131678487C>T	ENST00000259324.5	+	4	2793	c.2270C>T	c.(2269-2271)aCg>aTg	p.T757M	LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372599.3_Missense_Mutation_p.T757M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T757M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	757					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T757M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						ACCAACCTGACGCAGATCGAG	0.682													C|||	2	0.000399361	0.0	0.0	5008	,	,		17392	0.0		0.0	False		,,,				2504	0.002				p.T757M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2270T	9						.						49.0	49.0	49.0					9																	131678487		2203	4300	6503	130718308	SO:0001583	missense	56262	exon4			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.2270C>T	9.37:g.131678487C>T	ENSP00000259324:p.Thr757Met		130718308	NM_019594	Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641464	0.67244	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.59638	0.25;0.25;0.25	5.03	5.03	0.67393	.	0.157893	0.56097	D	0.000027	T	0.61652	0.2364	L	0.42744	1.35	0.51767	D	0.999932	P	0.41848	0.763	P	0.48425	0.577	T	0.65496	-0.6154	10	0.66056	D	0.02	.	17.3366	0.87283	0.0:1.0:0.0:0.0	.	757	Q8IWT6	LRC8A_HUMAN	M	757	ENSP00000361682:T757M;ENSP00000361680:T757M;ENSP00000259324:T757M	ENSP00000259324:T757M	T	+	2	0	LRRC8A	130718308	0.999000	0.42202	1.000000	0.80357	0.530000	0.34684	3.744000	0.55112	2.337000	0.79520	0.313000	0.20887	ACG		0.682	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594	
DOLK	22845	broad.mit.edu	37	9	131708156	131708156	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:131708156G>A	ENST00000372586.3	-	1	1742	c.1427C>T	c.(1426-1428)aCc>aTc	p.T476I	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	476					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)	p.T476I(1)		breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						AGATGTCATGGTCCCCTCAAA	0.498																																					p.T476I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1427T	9						.						110.0	107.0	108.0					9																	131708156		2203	4300	6503	130747977	SO:0001583	missense	22845	exon1			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.1427C>T	9.37:g.131708156G>A	ENSP00000361667:p.Thr476Ile		130747977	NM_014908	Q5SRE6	Missense_Mutation	SNP	ENST00000372586.3	37	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094101	0.76870	.	.	ENSG00000175283	ENST00000372586	T	0.69435	-0.4	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.85164	0.5634	M	0.88570	2.965	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.87814	0.2633	10	0.87932	D	0	-25.4778	18.2839	0.90107	0.0:0.0:1.0:0.0	.	476	Q9UPQ8	DOLK_HUMAN	I	476	ENSP00000361667:T476I	ENSP00000361667:T476I	T	-	2	0	DOLK	130747977	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.864000	0.99589	2.548000	0.85928	0.561000	0.74099	ACC		0.498	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908	
PRRC2B	84726	broad.mit.edu	37	9	134358191	134358191	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:134358191C>T	ENST00000357304.4	+	21	5325	c.5270C>T	c.(5269-5271)gCc>gTc	p.A1757V	SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.A1063V|PRRC2B_ENST00000405995.1_Missense_Mutation_p.A1063V	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1757							poly(A) RNA binding (GO:0044822)	p.A1757V(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TCGGAGGGGGCCGAGCGGCTG	0.582																																					p.A1757V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5270T	9						.						19.0	24.0	22.0					9																	134358191		1905	4114	6019	133348012	SO:0001583	missense	84726	exon21			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5270C>T	9.37:g.134358191C>T	ENSP00000349856:p.Ala1757Val		133348012	NM_013318	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812594	0.32053	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550	T;T;T	0.02472	4.28;4.6;4.28	5.03	4.08	0.47627	.	0.372166	0.18713	U	0.133234	T	0.02193	0.0068	N	0.08118	0	0.58432	D	0.999999	B;B	0.23442	0.063;0.085	B;B	0.21151	0.033;0.022	T	0.61501	-0.7050	10	0.27785	T	0.31	-25.381	16.167	0.81768	0.0:0.8546:0.1454:0.0	.	489;1757	Q5JSZ8;Q5JSZ5	.;PRC2B_HUMAN	V	1063;1757;1063	ENSP00000384606:A1063V;ENSP00000349856:A1757V;ENSP00000398853:A1063V	ENSP00000349856:A1757V	A	+	2	0	PRRC2B	133348012	0.968000	0.33430	0.997000	0.53966	0.507000	0.33981	2.435000	0.44811	2.333000	0.79357	0.561000	0.74099	GCC		0.582	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
VAV2	7410	broad.mit.edu	37	9	136642532	136642532	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:136642532C>A	ENST00000371850.3	-	23	1975	c.1944G>T	c.(1942-1944)aaG>aaT	p.K648N	VAV2_ENST00000371851.1_Missense_Mutation_p.K638N|VAV2_ENST00000406606.3_Missense_Mutation_p.K638N	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	648	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K638N(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CAGGGCAGGGCTTCACAGATG	0.597																																					p.K648N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1944T	9						.						143.0	137.0	139.0					9																	136642532		2203	4300	6503	135632353	SO:0001583	missense	7410	exon23				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1944G>T	9.37:g.136642532C>A	ENSP00000360916:p.Lys648Asn		135632353	NM_001134398	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604194	0.66445	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.16457	2.34;2.34;2.34	4.43	3.51	0.40186	Src homology-3 domain (3);Variant SH3 (1);	0.103138	0.64402	D	0.000004	T	0.25901	0.0631	L	0.61218	1.895	0.49130	D	0.999759	B;D;B	0.53462	0.215;0.96;0.215	B;P;B	0.52031	0.135;0.688;0.135	T	0.00912	-1.1517	10	0.42905	T	0.14	.	9.909	0.41394	0.0:0.8375:0.0:0.1625	.	638;648;638	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	N	648;638;638;638	ENSP00000360916:K648N;ENSP00000360917:K638N;ENSP00000385362:K638N	ENSP00000317258:K638N	K	-	3	2	VAV2	135632353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.000000	0.29770	2.288000	0.76882	0.655000	0.94253	AAG		0.597	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1		
OBP2A	29991	broad.mit.edu	37	9	138438641	138438641	+	Silent	SNP	C	C	T	rs371191828		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:138438641C>T	ENST00000539850.1	+	2	116	c.90C>T	c.(88-90)taC>taT	p.Y30Y	OBP2A_ENST00000342114.4_Intron|OBP2A_ENST00000371776.1_Silent_p.Y30Y|OBP2A_ENST00000340780.3_Silent_p.Y30Y			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	30					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.Y30Y(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GGACCTGGTACGTGAAGGCCA	0.612																																					p.Y30Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C90T	9						.	C		0,4394		0,0,2197	15.0	17.0	17.0		90	-3.9	0.0	9		17	1,8547		0,1,4273	no	coding-synonymous	OBP2A	NM_014582.2		0,1,6470	TT,TC,CC		0.0117,0.0,0.0077		30/171	138438641	1,12941	2197	4274	6471	137578462	SO:0001819	synonymous_variant	29991	exon2			AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.90C>T	9.37:g.138438641C>T			137578462	NM_014582	Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Silent	SNP	ENST00000539850.1	37	CCDS6992.1																																																																																				0.612	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582	
TRAF2	7186	broad.mit.edu	37	9	139818362	139818362	+	Silent	SNP	C	C	T	rs202188895		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:139818362C>T	ENST00000247668.2	+	10	1249	c.1197C>T	c.(1195-1197)gaC>gaT	p.D399D	TRAF2_ENST00000359662.3_Silent_p.D451D|TRAF2_ENST00000536468.1_Silent_p.D399D	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	399	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|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.D399D(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TGAACGGCGACGGCACCGGGC	0.612																																					p.D399D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1197T	9						.						117.0	93.0	101.0					9																	139818362		2203	4300	6503	138938183	SO:0001819	synonymous_variant	7186	exon10			U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1197C>T	9.37:g.139818362C>T			138938183	NM_021138	A8K107|B4DPJ7|Q7Z337|Q96NT2	Silent	SNP	ENST00000247668.2	37	CCDS7013.1																																																																																				0.612	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138	
KCNV2	169522	broad.mit.edu	37	9	2718017	2718017	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:2718017C>T	ENST00000382082.3	+	1	516	c.278C>T	c.(277-279)cCg>cTg	p.P93L		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	93					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.P93L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AGCGACCCTCCGGCCCTGCTG	0.682																																					p.P93L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C278T	9						.						61.0	45.0	51.0					9																	2718017		2202	4295	6497	2708017	SO:0001583	missense	169522	exon1			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.278C>T	9.37:g.2718017C>T	ENSP00000371514:p.Pro93Leu		2708017	NM_133497	Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	C	2.529	-0.309051	0.05458	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	D	0.96491	-4.03	4.53	1.51	0.23008	.	0.365106	0.28371	N	0.015599	D	0.90027	0.6886	N	0.19112	0.55	0.09310	N	0.999999	B	0.12630	0.006	B	0.06405	0.002	T	0.81690	-0.0818	10	0.41790	T	0.15	.	7.6292	0.28230	0.0:0.7115:0.1345:0.154	.	93	Q8TDN2	KCNV2_HUMAN	L	93	ENSP00000371514:P93L	ENSP00000371514:P93L	P	+	2	0	KCNV2	2708017	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	0.275000	0.18698	0.483000	0.27608	0.467000	0.42956	CCG		0.682	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497	
GLIS3	169792	broad.mit.edu	37	9	3829457	3829457	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:3829457G>A	ENST00000324333.10	-	9	2237	c.2044C>T	c.(2044-2046)Cac>Tac	p.H682Y	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.H837Y	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	682					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.H682Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCGGGGTAGTGTGGGGGACAG	0.542																																					p.H682Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2044T	9						.						93.0	76.0	82.0					9																	3829457		2203	4300	6503	3819457	SO:0001583	missense	169792	exon9			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2044C>T	9.37:g.3829457G>A	ENSP00000325494:p.His682Tyr		3819457	NM_152629	B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	g	16.53	3.148375	0.57151	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.12361	2.7;2.69	5.93	3.08	0.35506	.	0.114081	0.36409	N	0.002603	T	0.14874	0.0359	L	0.29908	0.895	0.30470	N	0.773403	P;P;B	0.48764	0.915;0.857;0.001	P;B;B	0.49829	0.623;0.439;0.002	T	0.03103	-1.1072	10	0.66056	D	0.02	.	9.9257	0.41492	0.0651:0.0:0.6858:0.2491	.	277;837;682	Q59FQ6;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	Y	682;837	ENSP00000325494:H682Y;ENSP00000371398:H837Y	ENSP00000325494:H682Y	H	-	1	0	GLIS3	3819457	0.979000	0.34478	0.054000	0.19295	0.602000	0.36980	2.695000	0.47043	0.394000	0.25230	0.563000	0.77884	CAC		0.542	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629	
SLC1A1	6505	broad.mit.edu	37	9	4561493	4561493	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:4561493C>T	ENST00000262352.3	+	3	513	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	SLC1A1_ENST00000490167.1_3'UTR	NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	93					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.R93C(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	AATTGGTCTGCGCGCTGTCGT	0.373																																					p.R93C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C277T	9						.						340.0	320.0	327.0					9																	4561493		2203	4300	6503	4551493	SO:0001583	missense	6505	exon3				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.277C>T	9.37:g.4561493C>T	ENSP00000262352:p.Arg93Cys		4551493	NM_004170	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949503	0.53186	.	.	ENSG00000106688	ENST00000262352	T	0.61627	0.09	5.67	5.67	0.87782	.	0.100416	0.64402	D	0.000001	T	0.72740	0.3498	H	0.95224	3.64	0.80722	D	1	B	0.31383	0.321	B	0.31337	0.128	T	0.78031	-0.2363	10	0.72032	D	0.01	.	19.3557	0.94412	0.0:1.0:0.0:0.0	.	93	P43005	EAA3_HUMAN	C	93	ENSP00000262352:R93C	ENSP00000262352:R93C	R	+	1	0	SLC1A1	4551493	1.000000	0.71417	0.933000	0.37362	0.408000	0.30992	3.758000	0.55220	2.673000	0.90976	0.563000	0.77884	CGC		0.373	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1		
SLC1A1	6505	broad.mit.edu	37	9	4583132	4583132	+	Missense_Mutation	SNP	G	G	A	rs199857691		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:4583132G>A	ENST00000262352.3	+	11	1524	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	430					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.A430T(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	GGGCCTGCCCGCCGAGGATGT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19896	0.001		0.0	False		,,,				2504	0.0				p.A430T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1288A	9						.						141.0	121.0	128.0					9																	4583132		2203	4300	6503	4573132	SO:0001583	missense	6505	exon11				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1288G>A	9.37:g.4583132G>A	ENSP00000262352:p.Ala430Thr		4573132	NM_004170	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	CCDS6452.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.38	1.620661	0.28889	.	.	ENSG00000106688	ENST00000262352	T	0.59772	0.24	5.49	3.53	0.40419	.	0.147549	0.64402	N	0.000010	T	0.29389	0.0732	N	0.03194	-0.395	0.80722	D	1	B	0.16396	0.017	B	0.24974	0.057	T	0.20405	-1.0276	10	0.02654	T	1	.	11.308	0.49347	0.1575:0.0:0.8425:0.0	.	430	P43005	EAA3_HUMAN	T	430	ENSP00000262352:A430T	ENSP00000262352:A430T	A	+	1	0	SLC1A1	4573132	1.000000	0.71417	0.061000	0.19648	0.800000	0.45204	4.884000	0.63135	0.700000	0.31782	0.655000	0.94253	GCC		0.617	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1		
RLN2	6019	broad.mit.edu	37	9	5304494	5304494	+	Missense_Mutation	SNP	C	C	G	rs201648853	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:5304494C>G	ENST00000381627.3	-	1	475	c.87G>C	c.(85-87)gaG>gaC	p.E29D	RLN2_ENST00000308420.3_Missense_Mutation_p.E29D	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	29					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.E29D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TAATAACTTCCTCCATCCATG	0.512																																					p.E29D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G87C	9						.						78.0	80.0	79.0					9																	5304494		2203	4300	6503	5294494	SO:0001583	missense	6019	exon1				CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.87G>C	9.37:g.5304494C>G	ENSP00000371040:p.Glu29Asp		5294494	NM_134441	A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Missense_Mutation	SNP	ENST00000381627.3	37	CCDS6460.1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.164388	0.01673	.	.	ENSG00000107014	ENST00000381627;ENST00000308420	D;D	0.84516	-1.86;-1.84	3.08	-2.65	0.06095	Insulin-like (1);	1.112660	0.07194	N	0.856292	T	0.46132	0.1377	N	0.00289	-1.7	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50206	-0.8855	10	0.02654	T	1	.	2.2803	0.04112	0.2026:0.4343:0.216:0.1472	.	29;29	P04090;P04090-2	REL2_HUMAN;.	D	29	ENSP00000371040:E29D;ENSP00000308018:E29D	ENSP00000308018:E29D	E	-	3	2	RLN2	5294494	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.543000	0.02194	-1.046000	0.03246	-0.357000	0.07601	GAG		0.512	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441	
NFIB	4781	broad.mit.edu	37	9	14307164	14307164	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:14307164C>T	ENST00000380959.3	-	2	859	c.386G>A	c.(385-387)cGt>cAt	p.R129H	NFIB_ENST00000380953.1_Missense_Mutation_p.R129H|NFIB_ENST00000380934.4_Missense_Mutation_p.R155H|NFIB_ENST00000397581.2_Missense_Mutation_p.R129H|NFIB_ENST00000380921.3_Missense_Mutation_p.R129H|NFIB_ENST00000397579.2_Missense_Mutation_p.R129H|NFIB_ENST00000397575.3_Missense_Mutation_p.R129H	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	129					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R129H(2)		central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TAGATCCAGACGCCAGACTTT	0.522			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																p.R155H	Esophageal Squamous(132;921 1730 14828 40753 46471)		Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G464A	9						.						113.0	117.0	116.0					9																	14307164		2203	4300	6503	14297164	SO:0001583	missense	4781	exon2			U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.386G>A	9.37:g.14307164C>T	ENSP00000370346:p.Arg129His		14297164	NM_001190738	G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608781	0.87258	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000380921	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.71	5.71	0.89125	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91888	0.7432	M	0.81802	2.56	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.991;0.994;0.991	D	0.92289	0.5840	10	0.87932	D	0	.	19.8773	0.96884	0.0:1.0:0.0:0.0	.	129;129;129	Q5VW27;Q5VW29;O00712	.;.;NFIB_HUMAN	H	155;129;129;129;129;129;129	ENSP00000370321:R155H;ENSP00000370346:R129H;ENSP00000370340:R129H;ENSP00000380705:R129H;ENSP00000380711:R129H;ENSP00000380709:R129H;ENSP00000370308:R129H	ENSP00000370308:R129H	R	-	2	0	NFIB	14297164	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.686000	0.91538	0.650000	0.86243	CGT		0.522	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596	
EQTN	54586	broad.mit.edu	37	9	27297005	27297005	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:27297005delT	ENST00000380032.3	-	1	132	c.49delA	c.(49-51)agtfs	p.S18fs	EQTN_ENST00000484994.1_5'Flank|EQTN_ENST00000380031.1_Frame_Shift_Del_p.S18fs|EQTN_ENST00000537675.1_Frame_Shift_Del_p.S18fs	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	18					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)		p.S17fs*4(1)									AAAGTGCTACTTTTTAAGGAA	0.318																																					p.S17fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.49delA	9						.						26.0	27.0	27.0					9																	27297005		2187	4291	6478	27287005	SO:0001589	frameshift_variant	54586	exon1			AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.49delA	9.37:g.27297005delT	ENSP00000369371:p.Ser18fs		27287005	NM_001161585	B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Frame_Shift_Del	DEL	ENST00000380032.3	37	CCDS35001.1																																																																																				0.318	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641	
TLN1	7094	broad.mit.edu	37	9	35706487	35706487	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:35706487G>A	ENST00000314888.9	-	39	5503	c.5150C>T	c.(5149-5151)gCc>gTc	p.A1717V	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.A1701V	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1717	Interaction with SYNM.				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.A1717V(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)			GGCAGCATTGGCCAGCGGCTC	0.592																																					p.A1717V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5150T	9						.						44.0	44.0	44.0					9																	35706487		2203	4300	6503	35696487	SO:0001583	missense	7094	exon39			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.5150C>T	9.37:g.35706487G>A	ENSP00000316029:p.Ala1717Val		35696487	NM_006289	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047218	0.55110	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.11277	2.79;2.79	5.38	5.38	0.77491	.	0.052934	0.85682	D	0.000000	T	0.12817	0.0311	L	0.48642	1.525	0.80722	D	1	B	0.24618	0.107	B	0.19946	0.027	T	0.08207	-1.0733	10	0.24483	T	0.36	-13.8324	18.736	0.91755	0.0:0.0:1.0:0.0	.	1717	Q9Y490	TLN1_HUMAN	V	1717;1701	ENSP00000316029:A1717V;ENSP00000442981:A1701V	ENSP00000316029:A1717V	A	-	2	0	TLN1	35696487	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.864000	0.99589	2.512000	0.84698	0.555000	0.69702	GCC		0.592	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	
TMEM8B	51754	broad.mit.edu	37	9	35847067	35847067	+	Intron	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:35847067G>A	ENST00000377991.4	+	11	1834				TMEM8B_ENST00000377988.2_Intron|TMEM8B_ENST00000439587.2_Silent_p.T298T|TMEM8B_ENST00000377996.1_Silent_p.T298T	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B						cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T298T(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TTTCCACCACGTTCTCCGAGG	0.488																																					p.T298T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G894A	9						.						193.0	136.0	155.0					9																	35847067		2203	4300	6503	35837067	SO:0001627	intron_variant	51754	exon11			BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.819+75G>A	9.37:g.35847067G>A			35837067	NM_016446	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	ENST00000377991.4	37	CCDS43800.1																																																																																				0.488	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446	
FBXO10	26267	broad.mit.edu	37	9	37537831	37537831	+	Missense_Mutation	SNP	T	T	C	rs375383268		TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:37537831T>C	ENST00000432825.2	-	3	743	c.695A>G	c.(694-696)cAt>cGt	p.H232R	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000543968.1_5'Flank|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	232					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.H232R(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CAGGAAGATATGGGTGTTTTT	0.502																																					p.H232R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A695G	9						.	T	ARG/HIS	1,3911		0,1,1955	81.0	81.0	81.0		695	4.0	1.0	9		81	0,8268		0,0,4134	no	missense	FBXO10	NM_012166.2	29	0,1,6089	CC,CT,TT		0.0,0.0256,0.0082	benign	232/957	37537831	1,12179	1956	4134	6090	37527831	SO:0001583	missense	26267	exon3			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.695A>G	9.37:g.37537831T>C	ENSP00000403802:p.His232Arg		37527831	NM_012166	Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.444861	0.25987	2.56E-4	0.0	ENSG00000147912	ENST00000432825	T	0.40756	1.02	5.3	3.99	0.46301	Pectin lyase fold/virulence factor (1);	0.267886	0.38111	N	0.001802	T	0.18800	0.0451	N	0.14661	0.345	0.80722	D	1	B	0.29432	0.244	B	0.20767	0.031	T	0.08659	-1.0711	10	0.20046	T	0.44	-9.1982	4.0673	0.09866	0.0:0.2907:0.0:0.7093	.	232	Q9UK96	FBX10_HUMAN	R	232	ENSP00000403802:H232R	ENSP00000276960:H232R	H	-	2	0	FBXO10	37527831	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	4.684000	0.61686	2.126000	0.65437	0.533000	0.62120	CAT		0.502	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3		
FRMPD1	22844	broad.mit.edu	37	9	37740286	37740286	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:37740286C>T	ENST00000539465.1	+	15	2354	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Silent_p.S456S|FRMPD1_ENST00000377765.3_Silent_p.S587S|FRMPD1_ENST00000536622.1_Silent_p.S409S			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	587						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S587S(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)		GTGCCGAGTCCGAGGCGTCCG	0.637																																					p.S587S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1761T	9						.						32.0	35.0	34.0					9																	37740286		2203	4300	6503	37730286	SO:0001819	synonymous_variant	22844	exon15			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.1761C>T	9.37:g.37740286C>T			37730286	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	CCDS6612.1																																																																																				0.637	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
ALDH1B1	219	broad.mit.edu	37	9	38396925	38396925	+	Missense_Mutation	SNP	C	C	T	rs201118307	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:38396925C>T	ENST00000377698.3	+	2	1333	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	394					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.R394C(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		TTTCGGGGAGCGTGGTTTCTT	0.542													C|||	2	0.000399361	0.0	0.0	5008	,	,		19496	0.001		0.0	False		,,,				2504	0.001				p.R394C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1180T	9						.						106.0	86.0	93.0					9																	38396925		2203	4300	6503	38386925	SO:0001583	missense	219	exon2			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1180C>T	9.37:g.38396925C>T	ENSP00000366927:p.Arg394Cys		38386925	NM_000692	B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.83	1.461412	0.26248	.	.	ENSG00000137124	ENST00000377698;ENST00000540055	T	0.77098	-1.07	5.81	3.8	0.43715	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.587759	0.15205	N	0.274791	T	0.77294	0.4109	M	0.83223	2.63	0.09310	N	0.999999	B	0.18968	0.032	B	0.14578	0.011	T	0.71474	-0.4582	10	0.87932	D	0	.	8.2225	0.31549	0.2201:0.6952:0.0:0.0847	.	394	P30837	AL1B1_HUMAN	C	394;95	ENSP00000366927:R394C	ENSP00000366927:R394C	R	+	1	0	ALDH1B1	38386925	0.004000	0.15560	0.003000	0.11579	0.989000	0.77384	1.580000	0.36547	1.479000	0.48272	0.655000	0.94253	CGT		0.542	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1		
PRKACG	5568	broad.mit.edu	37	9	71628906	71628906	+	Missense_Mutation	SNP	C	C	T	rs138280963	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:71628906C>T	ENST00000377276.2	-	1	133	c.103G>A	c.(103-105)Gct>Act	p.A35T		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	35					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.A35T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GTGTTTTGAGCGGGGTTTCCC	0.632																																					p.A35T	Esophageal Squamous(110;2236 2623 32146)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G103A	9						.	C	THR/ALA	7,4399	12.9+/-30.5	0,7,2196	73.0	75.0	75.0		103	-0.6	0.0	9	dbSNP_134	75	0,8600		0,0,4300	yes	missense	PRKACG	NM_002732.3	58	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign	35/352	71628906	7,12999	2203	4300	6503	70818726	SO:0001583	missense	5568	exon1			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.103G>A	9.37:g.71628906C>T	ENSP00000366488:p.Ala35Thr		70818726	NM_002732	O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	C	2.832	-0.242500	0.05906	0.001589	0.0	ENSG00000165059	ENST00000377276	T	0.07908	3.15	1.03	-0.614	0.11590	Protein kinase-like domain (1);	1.402030	0.05983	U	0.644664	T	0.05181	0.0138	L	0.33753	1.03	0.21256	N	0.999746	B	0.02656	0.0	B	0.06405	0.002	T	0.40831	-0.9542	10	0.02654	T	1	.	4.1425	0.10200	0.0:0.5491:0.4509:0.0	.	35	P22612	KAPCG_HUMAN	T	35	ENSP00000366488:A35T	ENSP00000366488:A35T	A	-	1	0	PRKACG	70818726	0.381000	0.25140	0.005000	0.12908	0.005000	0.04900	-2.437000	0.01018	0.458000	0.26988	0.467000	0.42956	GCT		0.632	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1		
FAM189A2	9413	broad.mit.edu	37	9	72003331	72003331	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:72003331G>A	ENST00000257515.8	+	10	1534	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	FAM189A2_ENST00000377216.3_Missense_Mutation_p.E159K|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000303068.7_Missense_Mutation_p.E207K|FAM189A2_ENST00000455972.1_Missense_Mutation_p.E372K	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	372						integral component of membrane (GO:0016021)		p.E159K(1)|p.E372K(1)		endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGAGCACATGGAGGAAGCCAT	0.418																																					p.E372K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1114A	9						.						41.0	38.0	39.0					9																	72003331		2203	4300	6503	71193151	SO:0001583	missense	9413	exon10			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.1114G>A	9.37:g.72003331G>A	ENSP00000257515:p.Glu372Lys		71193151	NM_004816	Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Missense_Mutation	SNP	ENST00000257515.8	37	CCDS6629.1	.	.	.	.	.	.	.	.	.	.	G	36	5.624856	0.96660	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000303068;ENST00000377225;ENST00000377216	T;T;T	0.42513	2.07;2.07;0.97	5.8	5.8	0.92144	.	0.057165	0.64402	D	0.000002	T	0.52435	0.1734	M	0.73217	2.22	0.58432	D	0.999999	P	0.52316	0.952	P	0.45829	0.494	T	0.57406	-0.7817	10	0.62326	D	0.03	-25.6262	20.063	0.97692	0.0:0.0:1.0:0.0	.	372	Q15884	F1892_HUMAN	K	372;372;207;371;159	ENSP00000395675:E372K;ENSP00000257515:E372K;ENSP00000304435:E207K	ENSP00000257515:E372K	E	+	1	0	FAM189A2	71193151	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.731000	0.98807	2.735000	0.93741	0.655000	0.94253	GAG		0.418	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816	
TRPM6	140803	broad.mit.edu	37	9	77377530	77377530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:77377530G>A	ENST00000360774.1	-	26	4294	c.4057C>T	c.(4057-4059)Cga>Tga	p.R1353*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.R1348*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.R1353*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.R1348*|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.R1353*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1353					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R1353*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAAGGAACTCGCTTTAGATTA	0.478																																					p.R1348X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4042T	9						.						153.0	160.0	158.0					9																	77377530		2203	4300	6503	76567350	SO:0001587	stop_gained	140803	exon26			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4057C>T	9.37:g.77377530G>A	ENSP00000354006:p.Arg1353*		76567350	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	43	9.868141	0.99284	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	6.02	2.81	0.32909	.	1.247560	0.05078	N	0.482954	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9039	0.24299	0.0733:0.3558:0.4707:0.1002	.	.	.	.	X	1353;1353;1348;1348;1353;1016;1016	.	ENSP00000309693:R1016X	R	-	1	2	TRPM6	76567350	0.002000	0.14202	0.952000	0.39060	0.751000	0.42716	0.956000	0.29202	1.500000	0.48636	0.655000	0.94253	CGA		0.478	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
TRPM6	140803	broad.mit.edu	37	9	77397705	77397705	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:77397705C>T	ENST00000360774.1	-	22	3221	c.2984G>A	c.(2983-2985)cGc>cAc	p.R995H	TRPM6_ENST00000361255.3_Missense_Mutation_p.R990H|TRPM6_ENST00000451710.3_Missense_Mutation_p.R995H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.R990H|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R995H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	995					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R995H(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GATGGCCTTGCGTGCCACTCC	0.448																																					p.R990H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2969A	9						.						124.0	105.0	111.0					9																	77397705		2203	4300	6503	76587525	SO:0001583	missense	140803	exon22			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2984G>A	9.37:g.77397705C>T	ENSP00000354006:p.Arg995His		76587525	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348060	0.95807	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77	5.71	5.71	0.89125	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	M	0.91612	3.225	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.997;0.998;0.914	T	0.54516	-0.8282	10	0.87932	D	0	.	19.8632	0.96793	0.0:1.0:0.0:0.0	.	658;995;990	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	H	995;995;990;990;995;658;658	ENSP00000354006:R995H;ENSP00000407341:R995H;ENSP00000396672:R990H;ENSP00000354962:R990H;ENSP00000366060:R995H	ENSP00000309693:R658H	R	-	2	0	TRPM6	76587525	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.771000	0.85420	2.704000	0.92352	0.561000	0.74099	CGC		0.448	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
TRPM6	140803	broad.mit.edu	37	9	77448951	77448951	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:77448951C>T	ENST00000360774.1	-	6	869	c.632G>A	c.(631-633)gGt>gAt	p.G211D	TRPM6_ENST00000361255.3_Missense_Mutation_p.G206D|TRPM6_ENST00000451710.3_Missense_Mutation_p.G211D|TRPM6_ENST00000376871.3_Missense_Mutation_p.G211D|TRPM6_ENST00000449912.2_Missense_Mutation_p.G206D|TRPM6_ENST00000359047.2_Missense_Mutation_p.G211D|TRPM6_ENST00000376872.3_Missense_Mutation_p.G211D|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376864.4_Missense_Mutation_p.G211D	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	211					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.G211N(1)|p.G211D(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCAATGACACCCCAAGGAGG	0.428																																					p.G206D												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G617A	9						.						163.0	150.0	155.0					9																	77448951		2203	4300	6503	76638771	SO:0001583	missense	140803	exon6			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.632G>A	9.37:g.77448951C>T	ENSP00000354006:p.Gly211Asp		76638771	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	34	5.295869	0.95574	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	H	0.94925	3.6	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.992;0.996	T	0.68135	-0.5489	10	0.87932	D	0	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	211;211;211;211;211;206	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	D	211;211;211;211;206;206;210;211;211	ENSP00000354006:G211D;ENSP00000407341:G211D;ENSP00000366068:G211D;ENSP00000366067:G211D;ENSP00000396672:G206D;ENSP00000354962:G206D;ENSP00000366060:G211D;ENSP00000351942:G211D	ENSP00000351942:G211D	G	-	2	0	TRPM6	76638771	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.730000	0.84881	2.837000	0.97791	0.591000	0.81541	GGT		0.428	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
PCSK5	5125	broad.mit.edu	37	9	78789974	78789974	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:78789974C>T	ENST00000545128.1	+	14	2367	c.1829C>T	c.(1828-1830)cCg>cTg	p.P610L	PCSK5_ENST00000376752.4_Missense_Mutation_p.P610L|PCSK5_ENST00000376767.3_Missense_Mutation_p.P610L	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	610					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.P610L(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AATGAATTTCCGAAAGTGGAA	0.478																																					p.P610L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1829T	9						.						126.0	118.0	121.0					9																	78789974		2203	4300	6503	77979794	SO:0001583	missense	5125	exon14				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1829C>T	9.37:g.78789974C>T	ENSP00000446280:p.Pro610Leu		77979794	NM_001190482	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291869	0.80914	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	T;T;T;T	0.69435	0.73;-0.4;0.58;1.58	5.74	5.74	0.90152	.	0.218247	0.49305	D	0.000160	T	0.63498	0.2516	M	0.78049	2.395	0.53688	D	0.999971	P;B	0.40681	0.727;0.022	B;B	0.32393	0.145;0.011	T	0.66316	-0.5954	10	0.07030	T	0.85	-14.496	19.9326	0.97124	0.0:1.0:0.0:0.0	.	610;610	Q92824-2;B1AMG5	.;.	L	610;313;610;610;610;283	ENSP00000446280:P610L;ENSP00000365958:P610L;ENSP00000365943:P610L;ENSP00000411654:P283L	ENSP00000365943:P610L	P	+	2	0	PCSK5	77979794	0.973000	0.33851	0.998000	0.56505	0.915000	0.54546	2.280000	0.43443	2.720000	0.93068	0.650000	0.86243	CCG		0.478	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
PRUNE2	158471	broad.mit.edu	37	9	79270373	79270373	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:79270373G>A	ENST00000376718.3	-	10	8445	c.8322C>T	c.(8320-8322)ggC>ggT	p.G2774G	PRUNE2_ENST00000428286.1_Silent_p.G2415G|PRUNE2_ENST00000223609.6_Silent_p.G38G|PRUNE2_ENST00000443509.2_Silent_p.G23G|PRUNE2_ENST00000466266.2_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2774					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.G2774G(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACTCAGCACGCCCTCTTCAA	0.458																																					p.G2774G												.	.	2	Substitution - coding silent(2)	large_intestine(1)|pancreas(1)	c.C8322T	9						.						75.0	67.0	69.0					9																	79270373		1568	3582	5150	78460193	SO:0001819	synonymous_variant	158471	exon10			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.8322C>T	9.37:g.79270373G>A			78460193	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	8.310	0.821925	0.16678	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.74	-1.01	0.10169	.	.	.	.	.	T	0.39358	0.1075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	-27.9261	0.7209	0.00940	0.1527:0.2162:0.2224:0.4087	.	.	.	.	C	2096	.	.	R	-	1	0	PRUNE2	78460193	0.016000	0.18221	0.838000	0.33150	0.781000	0.44180	-0.091000	0.11146	-0.312000	0.08741	-1.463000	0.01021	CGT		0.458	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
OMD	4958	broad.mit.edu	37	9	95177558	95177558	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:95177558C>A	ENST00000375550.4	-	3	1417	c.1142G>T	c.(1141-1143)aGg>aTg	p.R381M	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	381					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.R381M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TGGAAATCTCCTGAAAACTTG	0.398			T	USP6	aneurysmal bone cysts																																p.R381M			Dom	yes		9	9q22.31	4958	osteomodulin		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1142T	9						.						221.0	204.0	210.0					9																	95177558		2203	4300	6503	94217379	SO:0001583	missense	4958	exon3			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.1142G>T	9.37:g.95177558C>A	ENSP00000364700:p.Arg381Met		94217379	NM_005014	Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765847	0.69878	.	.	ENSG00000127083	ENST00000375550	T	0.48201	0.82	5.44	4.54	0.55810	.	0.326406	0.27966	N	0.017121	T	0.54647	0.1871	M	0.63428	1.95	0.33731	D	0.61821	D	0.59767	0.986	P	0.49708	0.62	T	0.71988	-0.4426	10	0.87932	D	0	-1.4285	14.4467	0.67356	0.0:0.9288:0.0:0.0712	.	381	Q99983	OMD_HUMAN	M	381	ENSP00000364700:R381M	ENSP00000364700:R381M	R	-	2	0	OMD	94217379	0.023000	0.18921	0.812000	0.32479	0.894000	0.52154	0.993000	0.29680	1.429000	0.47314	0.555000	0.69702	AGG		0.398	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014	
NCBP1	4686	broad.mit.edu	37	9	100410309	100410309	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:100410309C>T	ENST00000375147.3	+	8	957	c.701C>T	c.(700-702)gCc>gTc	p.A234V		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	234	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)	p.A234V(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TGCCTGTGGGCCCAGATTCAG	0.358																																					p.A234V	Ovarian(36;879 898 2893 44212 50307)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C701T	9						.						51.0	47.0	48.0					9																	100410309		2203	4300	6503	99450130	SO:0001583	missense	4686	exon8			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.701C>T	9.37:g.100410309C>T	ENSP00000364289:p.Ala234Val		99450130	NM_002486	B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078288	0.94000	.	.	ENSG00000136937	ENST00000375147	T	0.20598	2.06	5.55	5.55	0.83447	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.054189	0.64402	D	0.000001	T	0.43678	0.1258	M	0.84585	2.705	0.80722	D	1	B	0.27166	0.17	B	0.41946	0.371	T	0.33904	-0.9850	10	0.38643	T	0.18	-7.9335	19.55	0.95314	0.0:1.0:0.0:0.0	.	234	Q09161	NCBP1_HUMAN	V	234	ENSP00000364289:A234V	ENSP00000364289:A234V	A	+	2	0	NCBP1	99450130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.593000	0.67550	2.799000	0.96334	0.586000	0.80456	GCC		0.358	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486	
OR13F1	138805	broad.mit.edu	37	9	107267447	107267447	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:107267447delA	ENST00000334726.2	+	1	993	c.904delA	c.(904-906)aaafs	p.K303fs		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K303fs*3(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTGGCCTTGAAAAAATTGCT	0.363																																					p.K302fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.904delA	9						.						41.0	44.0	43.0					9																	107267447		2203	4300	6503	106307268	SO:0001589	frameshift_variant	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.904delA	9.37:g.107267447delA	ENSP00000334452:p.Lys303fs		106307268	NM_001004485	Q6IF50	Frame_Shift_Del	DEL	ENST00000334726.2	37	CCDS35087.1																																																																																				0.363	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1		
PHF19	26147	broad.mit.edu	37	9	123632078	123632080	+	Intron	DEL	GGA	GGA	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:123632078_123632080delGGA	ENST00000373896.3	-	5	718				PHF19_ENST00000312189.6_In_Frame_Del_p.S171del|PHF19_ENST00000487555.1_5'Flank|PHF19_ENST00000419155.1_5'Flank	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19						chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.S170delS(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGCCCCACTGGAGGAGGCAGGA	0.626																																					p.170_170del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.508_510del	9						.																																			122671901	SO:0001627	intron_variant	26147	exon5			BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.465+42TCC>-	9.37:g.123632081_123632083delGGA			122671899	NM_001009936	Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	In_Frame_Del	DEL	ENST00000373896.3	37	CCDS35116.1																																																																																				0.626	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308	
AK8	158067	broad.mit.edu	37	9	135753607	135753607	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:135753607delG	ENST00000298545.3	-	1	557	c.36delC	c.(34-36)cccfs	p.P12fs	C9orf9_ENST00000350499.6_5'Flank|AK8_ENST00000477396.1_5'UTR|C9orf9_ENST00000356311.5_5'Flank|C9orf9_ENST00000372136.3_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	12					nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.E13fs*14(2)|p.E13fs*40(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GGGGCATCTCGGGGGGGATAC	0.697																																					p.P12fs												.	.	4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	large_intestine(2)|pancreas(2)	c.36delC	9						.						41.0	35.0	37.0					9																	135753607		2203	4298	6501	134743428	SO:0001589	frameshift_variant	158067	exon1			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.36delC	9.37:g.135753607delG	ENSP00000298545:p.Pro12fs		134743428	NM_152572	A8K821|Q8N9W9	Frame_Shift_Del	DEL	ENST00000298545.3	37	CCDS6954.1																																																																																				0.697	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572	
KCNT1	57582	broad.mit.edu	37	9	138662819	138662821	+	In_Frame_Del	DEL	AGG	AGG	-	rs531712032		TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:138662819_138662821delAGG	ENST00000263604.3	+	18	1829_1831	c.1829_1831delAGG	c.(1828-1833)aaggag>aag	p.E612del	KCNT1_ENST00000298480.5_In_Frame_Del_p.E631del|KCNT1_ENST00000371757.2_In_Frame_Del_p.E631del|KCNT1_ENST00000488444.2_In_Frame_Del_p.E612del|KCNT1_ENST00000486577.2_In_Frame_Del_p.E592del|KCNT1_ENST00000491806.2_In_Frame_Del_p.E598del|KCNT1_ENST00000490355.2_In_Frame_Del_p.E612del|KCNT1_ENST00000487664.1_In_Frame_Del_p.E586del			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	612					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.E631delE(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AACATCACCAAGGAGGAGAACTC	0.635																																					p.629_630del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1886_1888del	9						.																																			137802642	SO:0001651	inframe_deletion	57582	exon18			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1829_1831delAGG	9.37:g.138662822_138662824delAGG	ENSP00000263604:p.Glu612del		137802640	NM_020822	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	In_Frame_Del	DEL	ENST00000263604.3	37																																																																																					0.635	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822	
FBXW5	54461	broad.mit.edu	37	9	139837342	139837342	+	Silent	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr9:139837342G>T	ENST00000325285.3	-	4	484	c.405C>A	c.(403-405)ccC>ccA	p.P135P	FBXW5_ENST00000483559.1_5'UTR|C8G_ENST00000224181.3_5'Flank	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	135					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)	p.P135P(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TCCAGTTGTAGGGCCGCATGT	0.647																																					p.P135P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C405A	9						.						121.0	118.0	119.0					9																	139837342		2203	4300	6503	138957163	SO:0001819	synonymous_variant	54461	exon4			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.405C>A	9.37:g.139837342G>T			138957163	NM_018998	B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	ENST00000325285.3	37	CCDS7014.1																																																																																				0.647	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998	
NALCN	259232	broad.mit.edu	37	13	101736093	101736093	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:101736093G>A	ENST00000251127.6	-	31	3633	c.3552C>T	c.(3550-3552)atC>atT	p.I1184I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1184					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.I1184I(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)					GAGGCTGTGCGATCTTCAGTC	0.507																																					p.I1184I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3552T	13						.						73.0	72.0	72.0					13																	101736093		2203	4300	6503	100534094	SO:0001819	synonymous_variant	259232	exon31			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.3552C>T	13.37:g.101736093G>A			100534094	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	CCDS9498.1																																																																																				0.507	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
ITGBL1	9358	broad.mit.edu	37	13	102366833	102366833	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:102366833A>T	ENST00000376180.3	+	10	1544	c.1325A>T	c.(1324-1326)tAt>tTt	p.Y442F	ITGBL1_ENST00000545560.2_Missense_Mutation_p.Y301F|RP11-397O8.7_ENST00000606869.1_lincRNA|ITGBL1_ENST00000376162.3_Missense_Mutation_p.Y349F	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	442	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.Y442F(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAAGAGTGGTATATTTCTGGG	0.398																																					p.Y442F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1325T	13						.						425.0	394.0	404.0					13																	102366833		2203	4300	6503	101164834	SO:0001583	missense	9358	exon10			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1325A>T	13.37:g.102366833A>T	ENSP00000365351:p.Tyr442Phe		101164834	NM_004791	A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.125351	0.56721	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.89939	-2.59;-2.59;-2.59	6.16	4.97	0.65823	.	0.114545	0.64402	D	0.000006	D	0.83248	0.5213	L	0.32530	0.975	0.45066	D	0.99808	P;P	0.42203	0.651;0.773	B;B	0.38106	0.112;0.265	D	0.83665	0.0163	10	0.72032	D	0.01	.	12.8826	0.58026	0.8779:0.0:0.0:0.1221	.	301;442	B3KTP1;O95965	.;ITGBL_HUMAN	F	442;350;301;301;349	ENSP00000365351:Y442F;ENSP00000439903:Y301F;ENSP00000365332:Y349F	ENSP00000365332:Y349F	Y	+	2	0	ITGBL1	101164834	1.000000	0.71417	0.891000	0.34965	0.525000	0.34531	6.967000	0.76079	1.129000	0.42072	0.528000	0.53228	TAT		0.398	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791	
FAM155A	728215	broad.mit.edu	37	13	107863000	107863000	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:107863000C>A	ENST00000375915.2	-	2	1157	c.1019G>T	c.(1018-1020)aGg>aTg	p.R340M		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	340						integral component of membrane (GO:0016021)		p.R340M(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AAATGGACACCTCGTCTGAAC	0.468											OREG0022506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R340M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1019T	13						.						109.0	102.0	104.0					13																	107863000		2203	4300	6503	106661001	SO:0001583	missense	728215	exon2			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.1019G>T	13.37:g.107863000C>A	ENSP00000365080:p.Arg340Met	1407	106661001	NM_001080396	B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746723	0.89663	.	.	ENSG00000204442	ENST00000375915	T	0.13196	2.61	5.6	5.6	0.85130	.	0.051915	0.64402	D	0.000001	T	0.33990	0.0882	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.01557	-1.1325	10	0.87932	D	0	.	18.5812	0.91171	0.0:1.0:0.0:0.0	.	340	B1AL88	F155A_HUMAN	M	340	ENSP00000365080:R340M	ENSP00000365080:R340M	R	-	2	0	FAM155A	106661001	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.484000	0.81180	2.609000	0.88269	0.650000	0.86243	AGG		0.468	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396	
ANKRD10	55608	broad.mit.edu	37	13	111567095	111567095	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:111567095G>A	ENST00000267339.2	-	1	321	c.187C>T	c.(187-189)Cac>Tac	p.H63Y	ANKRD10_ENST00000310847.4_Missense_Mutation_p.H63Y|ANKRD10_ENST00000375758.5_Missense_Mutation_p.H63Y	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	63								p.H63Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	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)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GCGGCCCAGTGCACGGGCGTC	0.677																																					p.H63Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C187T	13						.						16.0	18.0	18.0					13																	111567095		2180	4290	6470	110365096	SO:0001583	missense	55608	exon1			AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"""Ankyrin repeat domain containing"""	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.187C>T	13.37:g.111567095G>A	ENSP00000267339:p.His63Tyr		110365096	NM_017664	Q5VW12|Q9BV12	Missense_Mutation	SNP	ENST00000267339.2	37	CCDS9520.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852089	0.71719	.	.	ENSG00000088448	ENST00000267339;ENST00000375758;ENST00000310847	T;T;T	0.71103	-0.54;-0.48;-0.48	3.99	3.99	0.46301	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	M	0.81614	2.55	0.58432	D	0.999997	D;P;D	0.62365	0.991;0.844;0.983	D;P;P	0.76575	0.988;0.482;0.862	D	0.84723	0.0741	10	0.44086	T	0.13	-8.4603	14.6237	0.68605	0.0:0.0:1.0:0.0	.	63;63;63	Q8IUW1;Q9NXR5-2;Q9NXR5	.;.;ANR10_HUMAN	Y	63	ENSP00000267339:H63Y;ENSP00000364911:H63Y;ENSP00000312534:H63Y	ENSP00000267339:H63Y	H	-	1	0	ANKRD10	110365096	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.322000	0.72886	1.752000	0.51891	0.491000	0.48974	CAC		0.677	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045783.1		
AMER2	219287	broad.mit.edu	37	13	25744736	25744736	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:25744736C>T	ENST00000515384.1	-	1	1689	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	AMER2_ENST00000357816.2_Intron|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Intron			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	341					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R341Q(1)									ggcgggcgcccggccgcTGCC	0.662																																					p.R341Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1022A	13						.						15.0	19.0	18.0					13																	25744736		997	2107	3104	24642736	SO:0001583	missense	219287	exon1			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1022G>A	13.37:g.25744736C>T	ENSP00000426528:p.Arg341Gln		24642736	NM_152704	Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	7.300	0.612843	0.14066	.	.	ENSG00000165566	ENST00000515384	T	0.21543	2.0	3.32	-0.549	0.11829	.	.	.	.	.	T	0.06690	0.0171	N	0.04508	-0.205	0.80722	D	1	B	0.25441	0.126	B	0.12156	0.007	T	0.36866	-0.9730	9	0.13470	T	0.59	.	5.4178	0.16384	0.0:0.1989:0.4851:0.316	.	341	Q8N7J2	F123A_HUMAN	Q	341	ENSP00000426528:R341Q	ENSP00000426528:R341Q	R	-	2	0	FAM123A	24642736	0.937000	0.31787	0.543000	0.28128	0.813000	0.45954	0.767000	0.26575	-0.158000	0.11040	0.462000	0.41574	CGG		0.662	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704	
WASF3	10810	broad.mit.edu	37	13	27255349	27255349	+	Missense_Mutation	SNP	C	C	T	rs547630336		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:27255349C>T	ENST00000335327.5	+	8	1053	c.875C>T	c.(874-876)tCg>tTg	p.S292L	WASF3_ENST00000361042.4_Missense_Mutation_p.S289L	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	292					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)		p.S292L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCATCTGCCTCGGCGAGGCAC	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		13009	0.0		0.0	False		,,,				2504	0.001				p.S292L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C875T	13						.						46.0	53.0	51.0					13																	27255349		2203	4300	6503	26153349	SO:0001583	missense	10810	exon8			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.875C>T	13.37:g.27255349C>T	ENSP00000335055:p.Ser292Leu		26153349	NM_006646	O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650335	0.47362	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.47528	0.84;0.87	5.94	5.94	0.96194	.	0.307523	0.36893	N	0.002356	T	0.38719	0.1051	L	0.33485	1.01	0.43394	D	0.99551	B;B	0.34061	0.313;0.436	B;B	0.25140	0.058;0.054	T	0.12167	-1.0558	10	0.32370	T	0.25	-23.4102	20.345	0.98787	0.0:1.0:0.0:0.0	.	289;292	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	L	289;292	ENSP00000354325:S289L;ENSP00000335055:S292L	ENSP00000335055:S292L	S	+	2	0	WASF3	26153349	0.980000	0.34600	0.972000	0.41901	0.416000	0.31233	2.983000	0.49345	2.817000	0.96982	0.555000	0.69702	TCG		0.701	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		
PAN3	255967	broad.mit.edu	37	13	28830471	28830471	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:28830471A>G	ENST00000380958.3	+	7	1195	c.1043A>G	c.(1042-1044)aAg>aGg	p.K348R	PAN3_ENST00000399613.1_Missense_Mutation_p.K148R|PAN3_ENST00000483842.1_3'UTR|PAN3_ENST00000282391.5_Missense_Mutation_p.K36R	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.K148R(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CATTCCCCCAAGATTACTCCA	0.413																																					p.K348R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1043G	13						.						210.0	202.0	205.0					13																	28830471		2203	4300	6503	27728471	SO:0001583	missense	255967	exon7			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1043A>G	13.37:g.28830471A>G	ENSP00000370345:p.Lys348Arg		27728471	NM_175854		Missense_Mutation	SNP	ENST00000380958.3	37	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424847	0.83667	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.45276	0.9;0.92;0.93	5.8	5.8	0.92144	.	0.086330	0.85682	D	0.000000	T	0.47710	0.1460	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.57899	0.981;0.981;0.974;0.974	P;P;D;D	0.67725	0.727;0.73;0.953;0.953	T	0.38478	-0.9659	10	0.22109	T	0.4	-15.4314	16.1455	0.81563	1.0:0.0:0.0:0.0	.	348;348;36;294	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	R	348;148;36	ENSP00000370345:K348R;ENSP00000382522:K148R;ENSP00000282391:K36R	ENSP00000282391:K36R	K	+	2	0	PAN3	27728471	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.938000	0.92943	2.206000	0.71126	0.528000	0.53228	AAG		0.413	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854	
USPL1	10208	broad.mit.edu	37	13	31232744	31232744	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:31232744G>A	ENST00000255304.4	+	9	2872	c.2530G>A	c.(2530-2532)Gct>Act	p.A844T		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	844					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)	p.A844T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CCACCCACATGCTCATGCTGC	0.498																																					p.A844T	Ovarian(60;318 1180 1554 28110 31601)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2530A	13						.						82.0	80.0	80.0					13																	31232744		2203	4300	6503	30130744	SO:0001583	missense	10208	exon9			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2530G>A	13.37:g.31232744G>A	ENSP00000255304:p.Ala844Thr		30130744	NM_005800	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	G	7.283	0.609450	0.14066	.	.	ENSG00000132952	ENST00000255304	T	0.13538	2.58	5.4	1.75	0.24633	.	1.573510	0.03711	N	0.250154	T	0.09818	0.0241	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.34279	-0.9835	10	0.02654	T	1	-0.2421	10.4734	0.44650	0.3312:0.0:0.6688:0.0	.	844	Q5W0Q7	USPL1_HUMAN	T	844	ENSP00000255304:A844T	ENSP00000255304:A844T	A	+	1	0	USPL1	30130744	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.084000	0.11268	0.019000	0.15079	-0.258000	0.10820	GCT		0.498	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800	
DCLK1	9201	broad.mit.edu	37	13	36686075	36686075	+	Silent	SNP	G	G	A	rs137961229		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:36686075G>A	ENST00000360631.3	-	3	865	c.654C>T	c.(652-654)acC>acT	p.T218T	DCLK1_ENST00000379892.4_Silent_p.T218T|DCLK1_ENST00000255448.4_Silent_p.T218T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	218	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.T218T(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CGGTGATATCGGTGAGGACCT	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18504	0.0		0.0	False		,,,				2504	0.0				p.T218T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C654T	13						.	G		2,4404	4.2+/-10.8	0,2,2201	171.0	142.0	152.0		654	-9.4	0.6	13	dbSNP_134	152	0,8600		0,0,4300	no	coding-synonymous	DCLK1	NM_004734.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		218/730	36686075	2,13004	2203	4300	6503	35584075	SO:0001819	synonymous_variant	9201	exon3			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.654C>T	13.37:g.36686075G>A			35584075	NM_004734	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37																																																																																					0.502	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	
SOHLH2	54937	broad.mit.edu	37	13	36748974	36748974	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:36748974C>T	ENST00000379881.3	-	7	762	c.674G>A	c.(673-675)cGt>cAt	p.R225H	SOHLH2_ENST00000554962.1_Missense_Mutation_p.R302H|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.R302H	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	225	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R225H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CAAGAGAGTACGCAGCTGCTC	0.393																																					p.R225H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G674A	13						.						78.0	75.0	76.0					13																	36748974		2203	4300	6503	35646974	SO:0001583	missense	54937	exon7			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.674G>A	13.37:g.36748974C>T	ENSP00000369210:p.Arg225His		35646974	NM_017826	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362183	0.61403	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	D;D;D	0.98717	-5.09;-5.09;-5.09	5.11	5.11	0.69529	Helix-loop-helix DNA-binding (5);	0.096082	0.46758	N	0.000265	D	0.99055	0.9676	M	0.82323	2.585	0.37305	D	0.908875	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99949	1.1511	10	0.87932	D	0	-8.7694	14.041	0.64674	0.0:1.0:0.0:0.0	.	302;225	B4DX90;Q9NX45	.;SOLH2_HUMAN	H	225;302;302	ENSP00000369210:R225H;ENSP00000451542:R302H;ENSP00000421868:R302H	ENSP00000421868:R302H	R	-	2	0	CCDC169-SOHLH2;SOHLH2	35646974	0.988000	0.35896	0.942000	0.38095	0.250000	0.25880	3.639000	0.54339	2.392000	0.81423	0.650000	0.86243	CGT		0.393	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826	
SPERT	220082	broad.mit.edu	37	13	46287514	46287514	+	Silent	SNP	G	G	A	rs184200267		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:46287514G>A	ENST00000310521.1	+	3	434	c.354G>A	c.(352-354)ccG>ccA	p.P118P	SPERT_ENST00000378966.3_Silent_p.P82P	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	118						cytoplasmic membrane-bounded vesicle (GO:0016023)		p.P118P(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		ACTACAACCCGCCGCGGGTGC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17081	0.001		0.0	False		,,,				2504	0.0				p.P118P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G354A	13						.						61.0	67.0	65.0					13																	46287514		2203	4299	6502	45185515	SO:0001819	synonymous_variant	220082	exon3			AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.354G>A	13.37:g.46287514G>A			45185515	NM_152719	A8K8I5|Q8NHV2	Silent	SNP	ENST00000310521.1	37	CCDS9399.1																																																																																				0.632	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719	
ZC3H13	23091	broad.mit.edu	37	13	46559477	46559477	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:46559477G>A	ENST00000242848.4	-	10	2023	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R559*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	559	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R559*(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)		CGGCCCATTCGGTCATTTCTA	0.403																																					p.R559X	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1675T	13						.						87.0	89.0	88.0					13																	46559477		2203	4300	6503	45457478	SO:0001587	stop_gained	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.1675C>T	13.37:g.46559477G>A	ENSP00000242848:p.Arg559*		45457478	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	G	41	9.109765	0.99068	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	.	.	.	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6379	0.76970	0.0:0.0:0.8624:0.1376	.	.	.	.	X	559;559;375	.	ENSP00000242848:R559X	R	-	1	2	ZC3H13	45457478	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.228000	0.51270	2.861000	0.98227	0.655000	0.94253	CGA		0.403	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
SETDB2	83852	broad.mit.edu	37	13	50055135	50055135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:50055135C>T	ENST00000317257.8	+	9	1900	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	SETDB2_ENST00000354234.4_Nonsense_Mutation_p.R347*|SETDB2_ENST00000258672.5_Nonsense_Mutation_p.R347*	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	359	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)	p.R359*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|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;3.1e-09)		GTGTCAAAACCGAGTTGTCCA	0.413																																					p.R347X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1039T	13						.						174.0	148.0	157.0					13																	50055135		2203	4300	6503	48953136	SO:0001587	stop_gained	83852	exon7			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.1075C>T	13.37:g.50055135C>T	ENSP00000326477:p.Arg359*		48953136	NM_001160308	Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Nonsense_Mutation	SNP	ENST00000317257.8	37	CCDS9417.1	.	.	.	.	.	.	.	.	.	.	C	39	7.772225	0.98480	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	.	.	.	5.61	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2042	0.59787	0.2404:0.7596:0.0:0.0	.	.	.	.	X	347;359;347	.	ENSP00000258672:R347X	R	+	1	2	SETDB2	48953136	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	2.560000	0.45896	2.653000	0.90120	0.655000	0.94253	CGA		0.413	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915	
ALG11	440138	broad.mit.edu	37	13	52593173	52593173	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:52593173delA	ENST00000521508.1	+	2	174	c.169delA	c.(169-171)aaafs	p.K57fs	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	57					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)	p.N58fs*7(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GTCAACTAGCAAAAATGGGAA	0.403																																					p.K57fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.169delA	13						.						120.0	115.0	117.0					13																	52593173		2203	4300	6503	51491174	SO:0001589	frameshift_variant	9724	exon2			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.169delA	13.37:g.52593173delA	ENSP00000430236:p.Lys57fs		51491174	NM_001004127	A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Frame_Shift_Del	DEL	ENST00000521508.1	37	CCDS31977.1																																																																																				0.403	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127	
PCDH20	64881	broad.mit.edu	37	13	61987546	61987546	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:61987546G>A	ENST00000409186.1	-	5	2791	c.686C>T	c.(685-687)gCc>gTc	p.A229V	PCDH20_ENST00000409204.4_Missense_Mutation_p.A229V			Q8N6Y1	PCD20_HUMAN	protocadherin 20	229	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)|poly(A) RNA binding (GO:0044822)	p.A202V(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATGCTCTATGGCCAGTCGGGT	0.537																																					p.A229V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C686T	13						.						106.0	94.0	98.0					13																	61987546		2203	4300	6503	60885547	SO:0001583	missense	64881	exon2			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.686C>T	13.37:g.61987546G>A	ENSP00000386653:p.Ala229Val		60885547	NM_022843	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	g	13.98	2.399968	0.42613	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.51574	0.7;0.7	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000006	T	0.44074	0.1276	L	0.52011	1.625	0.54753	D	0.999989	B	0.24426	0.103	B	0.25614	0.062	T	0.31943	-0.9925	10	0.46703	T	0.11	.	13.2045	0.59787	0.0726:0.0:0.9274:0.0	.	229	A8K1K9	.	V	229	ENSP00000387250:A229V;ENSP00000386653:A229V	ENSP00000386653:A229V	A	-	2	0	PCDH20	60885547	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.999000	0.88496	2.722000	0.93159	0.651000	0.88453	GCC		0.537	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843	
PCDH9	5101	broad.mit.edu	37	13	67800906	67800906	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:67800906G>A	ENST00000377865.2	-	1	1801	c.1667C>T	c.(1666-1668)gCg>gTg	p.A556V	PCDH9_ENST00000456367.1_Missense_Mutation_p.A556V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A556V|PCDH9_ENST00000544246.1_Missense_Mutation_p.A556V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A556V			Q9HC56	PCDH9_HUMAN	protocadherin 9	556	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A556E(1)|p.A556V(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AATCACAGCCGCTTGGCTTTG	0.418																																					p.A556V												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1667T	13						.						85.0	90.0	88.0					13																	67800906		2203	4300	6503	66698907	SO:0001583	missense	5101	exon2			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1667C>T	13.37:g.67800906G>A	ENSP00000367096:p.Ala556Val		66698907	NM_020403	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240178	0.39598	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.78	5.78	0.91487	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.51805	0.1696	L	0.31476	0.935	0.80722	D	1	D;P;P;P	0.59767	0.986;0.841;0.895;0.914	P;B;B;P	0.51229	0.663;0.28;0.296;0.572	T	0.31998	-0.9923	10	0.13470	T	0.59	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	556;556;556;556	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	V	556	ENSP00000442186:A556V;ENSP00000367096:A556V;ENSP00000401699:A556V;ENSP00000332060:A556V;ENSP00000367092:A556V	ENSP00000332060:A556V	A	-	2	0	PCDH9	66698907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	GCG		0.418	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
DIS3	22894	broad.mit.edu	37	13	73335611	73335611	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:73335611A>G	ENST00000377767.4	-	19	2660	c.2560T>C	c.(2560-2562)Ttt>Ctt	p.F854L	DIS3_ENST00000377780.4_Missense_Mutation_p.F824L|DIS3_ENST00000545453.1_Missense_Mutation_p.F692L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	854					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.F854L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTTCTTACAAATAAAATATAG	0.269										Multiple Myeloma(4;0.011)																											p.F824L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2470C	13						.						70.0	79.0	76.0					13																	73335611		2203	4300	6503	72233612	SO:0001583	missense	22894	exon19			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2560T>C	13.37:g.73335611A>G	ENSP00000366997:p.Phe854Leu		72233612	NM_001128226	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461668	0.63513	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.21734	1.99;1.99;1.99	5.86	5.86	0.93980	.	0.195592	0.64402	D	0.000016	T	0.28962	0.0719	M	0.76574	2.34	0.80722	D	1	B;B	0.32203	0.36;0.032	B;B	0.34652	0.187;0.038	T	0.04930	-1.0917	10	0.21014	T	0.42	.	16.2668	0.82588	1.0:0.0:0.0:0.0	.	824;854	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	L	854;824;692	ENSP00000366997:F854L;ENSP00000367011:F824L;ENSP00000440058:F692L	ENSP00000366997:F854L	F	-	1	0	DIS3	72233612	1.000000	0.71417	0.932000	0.37286	0.992000	0.81027	7.188000	0.77739	2.240000	0.73641	0.533000	0.62120	TTT		0.269	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953	
DZIP1	22873	broad.mit.edu	37	13	96239830	96239830	+	Silent	SNP	G	G	A	rs371016866		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:96239830G>A	ENST00000376829.2	-	20	3032	c.2181C>T	c.(2179-2181)agC>agT	p.S727S	DZIP1_ENST00000361156.3_Silent_p.S708S|DZIP1_ENST00000361396.2_Silent_p.S708S|DZIP1_ENST00000347108.3_Silent_p.S727S	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	727					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.S708S(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)			CCTCGATTTCGCTTCCCTCGG	0.547																																					p.S708S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2124T	13						.	G	,	0,4406		0,0,2203	184.0	156.0	165.0		2124,2181	-4.0	0.0	13		165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DZIP1	NM_014934.3,NM_198968.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	708/849,727/868	96239830	1,13005	2203	4300	6503	95037831	SO:0001819	synonymous_variant	22873	exon19			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.2181C>T	13.37:g.96239830G>A			95037831	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	CCDS9478.1																																																																																				0.547	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
RNF113B	140432	broad.mit.edu	37	13	98828976	98828976	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:98828976G>A	ENST00000267291.6	-	1	543	c.515C>T	c.(514-516)gCg>gTg	p.A172V	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	172							zinc ion binding (GO:0008270)	p.A172V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GCCCTTCCTCGCCATCCCCGA	0.622																																					p.A172V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C515T	13						.						80.0	68.0	72.0					13																	98828976		2203	4300	6503	97626977	SO:0001583	missense	140432	exon1			AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.515C>T	13.37:g.98828976G>A	ENSP00000267291:p.Ala172Val		97626977	NM_178861	Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.172681	0.00315	.	.	ENSG00000139797	ENST00000267291	T	0.27890	1.64	1.16	-0.143	0.13444	.	0.074349	0.53938	N	0.000060	T	0.04497	0.0123	N	0.00254	-1.765	0.22648	N	0.998891	B	0.09022	0.002	B	0.09377	0.004	T	0.36625	-0.9740	10	0.02654	T	1	.	3.0076	0.06033	0.6569:0.0:0.3431:0.0	.	172	Q8IZP6	R113B_HUMAN	V	172	ENSP00000267291:A172V	ENSP00000267291:A172V	A	-	2	0	RNF113B	97626977	1.000000	0.71417	0.976000	0.42696	0.243000	0.25628	2.097000	0.41748	-0.045000	0.13468	-0.350000	0.07774	GCG		0.622	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861	
COL4A2	1284	broad.mit.edu	37	13	111125481	111125481	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:111125481delC	ENST00000360467.5	+	29	2715	c.2409delC	c.(2407-2409)ggcfs	p.G803fs		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	803	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.P805fs*15(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAGACAGAGGCCCCCCTGGAT	0.682																																					p.G803fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2409delC	13						.						10.0	13.0	12.0					13																	111125481		1900	4065	5965	109923482	SO:0001589	frameshift_variant	1284	exon29			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2409delC	13.37:g.111125481delC	ENSP00000353654:p.Gly803fs		109923482	NM_001846	Q14052|Q548C3|Q5VZA9|Q66K23	Frame_Shift_Del	DEL	ENST00000360467.5	37	CCDS41907.1																																																																																				0.682	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
PROZ	8858	broad.mit.edu	37	13	113826163	113826163	+	Missense_Mutation	SNP	C	C	T	rs200473651	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr13:113826163C>T	ENST00000375547.2	+	8	954	c.947C>T	c.(946-948)aCg>aTg	p.T316M	PROZ_ENST00000342783.4_Missense_Mutation_p.T338M	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	316	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.T316M(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	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;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCGCTGACCACGCGGCCTGTC	0.637													C|||	2	0.000399361	0.0	0.0	5008	,	,		16841	0.0		0.001	False		,,,				2504	0.001				p.T316M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C947T	13						.						49.0	46.0	47.0					13																	113826163		2203	4300	6503	112874164	SO:0001583	missense	8858	exon8			M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.947C>T	13.37:g.113826163C>T	ENSP00000364697:p.Thr316Met		112874164	NM_003891	A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	CCDS9531.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.435	-0.901309	0.02453	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.88896	-2.44;-2.44	4.16	-8.32	0.00996	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.936100	0.01708	N	0.027570	T	0.68851	0.3046	N	0.01705	-0.755	0.09310	N	1	B;B	0.22480	0.011;0.07	B;B	0.18871	0.018;0.023	T	0.63769	-0.6562	10	0.87932	D	0	.	1.8959	0.03257	0.1173:0.2147:0.1925:0.4755	.	338;316	P22891-2;P22891	.;PROZ_HUMAN	M	316;338	ENSP00000364697:T316M;ENSP00000344458:T338M	ENSP00000344458:T338M	T	+	2	0	PROZ	112874164	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.751000	0.04803	-5.088000	0.00022	-1.800000	0.00619	ACG		0.637	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891	
FAM178A	55719	broad.mit.edu	37	10	102676714	102676714	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:102676714G>A	ENST00000238961.4	+	3	1114	c.572G>A	c.(571-573)gGc>gAc	p.G191D	FAM178A_ENST00000370269.3_Missense_Mutation_p.G191D|FAM178A_ENST00000370271.3_Missense_Mutation_p.G191D	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	191						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.G191D(1)									AGAGATCGAGGCAAAACCAAT	0.443																																					p.G191D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G572A	10						.						53.0	53.0	53.0					10																	102676714		2203	4300	6503	102666704	SO:0001583	missense	55719	exon3			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.572G>A	10.37:g.102676714G>A	ENSP00000238961:p.Gly191Asp		102666704	NM_018121	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	1.913	-0.450348	0.04572	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.43294	0.95;1.59;1.58	5.84	-0.535	0.11879	.	0.492323	0.19173	N	0.120892	T	0.15089	0.0364	N	0.08118	0	0.19775	N	0.999954	B;B;B	0.17268	0.0;0.0;0.021	B;B;B	0.16722	0.001;0.001;0.016	T	0.26189	-1.0110	10	0.06891	T	0.86	2.9504	4.6005	0.12350	0.4844:0.0:0.3668:0.1488	.	191;191;191	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	D	191	ENSP00000359294:G191D;ENSP00000238961:G191D;ENSP00000359292:G191D	ENSP00000238961:G191D	G	+	2	0	FAM178A	102666704	0.162000	0.22906	0.947000	0.38551	0.106000	0.19336	0.289000	0.18957	0.029000	0.15352	0.655000	0.94253	GGC		0.443	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3		
FAM178A	55719	broad.mit.edu	37	10	102683864	102683864	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:102683864A>T	ENST00000238961.4	+	5	1648	c.1106A>T	c.(1105-1107)cAt>cTt	p.H369L	FAM178A_ENST00000370269.3_Missense_Mutation_p.H369L|FAM178A_ENST00000370271.3_Missense_Mutation_p.H369L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	369						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.H369L(1)									GATGGACCACATCAGAAAGAA	0.408																																					p.H369L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1106T	10						.						64.0	66.0	65.0					10																	102683864		2203	4300	6503	102673854	SO:0001583	missense	55719	exon5			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1106A>T	10.37:g.102683864A>T	ENSP00000238961:p.His369Leu		102673854	NM_018121	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867900	0.32977	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.52526	0.66;1.29;1.28	5.16	3.99	0.46301	.	0.112011	0.41194	D	0.000933	T	0.46210	0.1381	L	0.27053	0.805	0.33854	D	0.633023	D;P;P;P	0.61697	0.99;0.557;0.557;0.763	P;B;B;B	0.57152	0.814;0.167;0.167;0.229	T	0.57940	-0.7724	10	0.42905	T	0.14	-3.1157	9.3547	0.38159	0.8193:0.1807:0.0:0.0	.	18;369;369;369	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	L	369	ENSP00000359294:H369L;ENSP00000238961:H369L;ENSP00000359292:H369L	ENSP00000238961:H369L	H	+	2	0	FAM178A	102673854	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.174000	0.31932	1.022000	0.39626	0.528000	0.53228	CAT		0.408	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3		
SEMA4G	57715	broad.mit.edu	37	10	102739898	102739898	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:102739898G>A	ENST00000370250.4	+	10	1521	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.R383H|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Missense_Mutation_p.R383H|MRPL43_ENST00000370242.4_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	383	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R383H(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GATTCATTGCGCAGCCAAGGC	0.582																																					p.R383H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1148A	10						.						131.0	96.0	108.0					10																	102739898		2203	4300	6503	102729888	SO:0001583	missense	57715	exon10			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1148G>A	10.37:g.102739898G>A	ENSP00000359270:p.Arg383His		102729888	NM_017893	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37		.	.	.	.	.	.	.	.	.	.	G	25.3	4.627181	0.87560	.	.	ENSG00000095539	ENST00000519649;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.68667	-0.5348	10	0.87932	D	0	.	17.5741	0.87943	0.0:0.0:1.0:0.0	.	383;383;383	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	H	383	ENSP00000428896:R383H;ENSP00000359270:R383H;ENSP00000430175:R383H;ENSP00000210633:R383H	ENSP00000210633:R383H	R	+	2	0	SEMA4G	102729888	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.314000	0.96306	2.405000	0.81733	0.484000	0.47621	CGC		0.582	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2		
PDZD7	79955	broad.mit.edu	37	10	102782092	102782092	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:102782092G>T	ENST00000370215.3	-	5	818	c.593C>A	c.(592-594)cCc>cAc	p.P198H		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	198						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.P198H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GGTGTCGGAGGGTGTTGAACC	0.617																																					p.P198H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C593A	10						.						133.0	119.0	124.0					10																	102782092		2203	4300	6503	102772082	SO:0001583	missense	79955	exon5			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.593C>A	10.37:g.102782092G>T	ENSP00000359234:p.Pro198His		102772082	NM_001195263	D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154152	0.38021	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.15372	2.43	5.29	3.38	0.38709	.	0.130552	0.51477	D	0.000094	T	0.31918	0.0812	L	0.53249	1.67	0.51767	D	0.99993	D;D	0.89917	1.0;0.992	D;P	0.69142	0.962;0.863	T	0.00958	-1.1500	10	0.37606	T	0.19	.	10.6327	0.45547	0.0724:0.133:0.7946:0.0	.	198;198	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	H	198	ENSP00000359234:P198H	ENSP00000359234:P198H	P	-	2	0	PDZD7	102772082	1.000000	0.71417	0.002000	0.10522	0.002000	0.02628	5.387000	0.66243	0.579000	0.29504	-0.379000	0.06801	CCC		0.617	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895	
LDB1	8861	broad.mit.edu	37	10	103869241	103869241	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:103869241C>T	ENST00000425280.1	-	9	1098	c.756G>A	c.(754-756)atG>atA	p.M252I	LDB1_ENST00000490751.1_5'Flank|LDB1_ENST00000361198.5_Missense_Mutation_p.M216I	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	252					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)	p.M216I(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TGAGCTCTTGCATGGGCTCGA	0.587																																					p.M252I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G756A	10						.						115.0	105.0	109.0					10																	103869241		2203	4300	6503	103859231	SO:0001583	missense	8861	exon9			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.756G>A	10.37:g.103869241C>T	ENSP00000392466:p.Met252Ile		103859231	NM_001113407	B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	37	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	C	35	5.591595	0.96590	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	M	0.85945	2.785	0.80722	D	1	P;D	0.61080	0.705;0.989	P;D	0.75484	0.785;0.986	D	0.86146	0.1584	9	0.87932	D	0	-21.3774	20.0341	0.97551	0.0:1.0:0.0:0.0	.	252;216	Q86U70;Q86U70-3	LDB1_HUMAN;.	I	216;252	.	ENSP00000354616:M216I	M	-	3	0	LDB1	103859231	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.753000	0.94483	0.555000	0.69702	ATG		0.587	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407	
COL17A1	1308	broad.mit.edu	37	10	105794081	105794081	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:105794081G>A	ENST00000353479.5	-	52	4068	c.3778C>T	c.(3778-3780)Cgc>Tgc	p.R1260C	COL17A1_ENST00000369733.3_Missense_Mutation_p.R1178C	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1260	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R1260C(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATGAAGCTGCGCACATCAGGA	0.632																																					p.R1260C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3778T	10						.						6.0	7.0	6.0					10																	105794081		2161	4233	6394	105784071	SO:0001583	missense	1308	exon52			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3778C>T	10.37:g.105794081G>A	ENSP00000340937:p.Arg1260Cys		105784071	NM_000494	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819495	0.90873	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.95342	-3.68;-3.38	5.07	5.07	0.68467	.	0.142074	0.32301	N	0.006292	D	0.97046	0.9035	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97337	0.9954	10	0.56958	D	0.05	-14.8414	16.6199	0.84927	0.0:0.0:1.0:0.0	.	1260	Q9UMD9	COHA1_HUMAN	C	1260;1178	ENSP00000340937:R1260C;ENSP00000358748:R1178C	ENSP00000340937:R1260C	R	-	1	0	COL17A1	105784071	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	5.030000	0.64128	2.357000	0.79964	0.561000	0.74099	CGC		0.632	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	
COL17A1	1308	broad.mit.edu	37	10	105799260	105799260	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:105799260G>T	ENST00000353479.5	-	43	3129	c.2839C>A	c.(2839-2841)Ctc>Atc	p.L947I	COL17A1_ENST00000369733.3_Intron	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	947	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L947I(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGAAGGTTGAGTCCGAAAGAA	0.607																																					p.L947I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2839A	10						.						84.0	87.0	86.0					10																	105799260		2203	4300	6503	105789250	SO:0001583	missense	1308	exon43			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2839C>A	10.37:g.105799260G>T	ENSP00000340937:p.Leu947Ile		105789250	NM_000494	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291078	0.40494	.	.	ENSG00000065618	ENST00000353479	D	0.90900	-2.75	4.97	-5.65	0.02459	.	1.162690	0.06808	N	0.789875	T	0.74581	0.3735	N	0.08118	0	0.25886	N	0.98354	B	0.10296	0.003	B	0.06405	0.002	T	0.60188	-0.7312	10	0.38643	T	0.18	-0.5211	2.3576	0.04300	0.457:0.2619:0.1713:0.1098	.	947	Q9UMD9	COHA1_HUMAN	I	947	ENSP00000340937:L947I	ENSP00000340937:L947I	L	-	1	0	COL17A1	105789250	0.238000	0.23825	0.080000	0.20451	0.888000	0.51559	-1.088000	0.03379	-0.748000	0.04753	0.491000	0.48974	CTC		0.607	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	
CFAP43	80217	broad.mit.edu	37	10	105903248	105903248	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:105903248A>C	ENST00000357060.3	-	32	4209	c.4094T>G	c.(4093-4095)tTg>tGg	p.L1365W	WDR96_ENST00000479392.1_5'Flank|WDR96_ENST00000428666.1_Missense_Mutation_p.L1337W	NM_025145.5	NP_079421.5												p.L1365W(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						CAAAGGGTCCAAGCCTTCTGG	0.373																																					p.L1365W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4094G	10						.						134.0	126.0	128.0					10																	105903248		2203	4300	6503	105893238	SO:0001583	missense	80217	exon32																														ENST00000357060.3:c.4094T>G	10.37:g.105903248A>C	ENSP00000349568:p.Leu1365Trp		105893238	NM_025145		Missense_Mutation	SNP	ENST00000357060.3	37	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.1|21.1	4.094892|4.094892	0.76870|0.76870	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000457071;ENST00000434629	T;T|.	0.19532|.	2.14;2.21|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.151092|.	0.46758|.	D|.	0.000267|.	T|T	0.75384|0.75384	0.3842|0.3842	M|M	0.74881|0.74881	2.28|2.28	0.50039|0.50039	D|D	0.99984|0.99984	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.998;0.999|.	T|T	0.75744|0.75744	-0.3210|-0.3210	10|5	0.66056|.	D|.	0.02|.	.|.	15.9576|15.9576	0.79898|0.79898	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1337;1365|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	W|G	1365;1337|214;697	ENSP00000349568:L1365W;ENSP00000400289:L1337W|.	ENSP00000349568:L1365W|.	L|W	-|-	2|1	0|0	WDR96|WDR96	105893238|105893238	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.684000|0.684000	0.39900|0.39900	7.668000|7.668000	0.83897|0.83897	2.250000|2.250000	0.74265|0.74265	0.454000|0.454000	0.30748|0.30748	TTG|TGG		0.373	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
ADRB1	153	broad.mit.edu	37	10	115804529	115804529	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:115804529C>A	ENST00000369295.2	+	1	724	c.638C>A	c.(637-639)cCc>cAc	p.P213H		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	213					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)	p.P213H(1)		large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	TACAACGACCCCAAGTGCTGC	0.657																																					p.P213H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C638A	10						.						62.0	50.0	54.0					10																	115804529		2203	4300	6503	115794519	SO:0001583	missense	153	exon1			J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.638C>A	10.37:g.115804529C>A	ENSP00000358301:p.Pro213His		115794519	NM_000684	B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Missense_Mutation	SNP	ENST00000369295.2	37	CCDS7586.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678628	0.68042	.	.	ENSG00000043591	ENST00000369295	T	0.39406	1.08	4.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.66963	0.2843	M	0.83692	2.655	0.53005	D	0.999966	D	0.71674	0.998	D	0.68943	0.961	T	0.74166	-0.3753	10	0.66056	D	0.02	.	17.1083	0.86669	0.0:1.0:0.0:0.0	.	213	P08588	ADRB1_HUMAN	H	213	ENSP00000358301:P213H	ENSP00000358301:P213H	P	+	2	0	ADRB1	115794519	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.704000	0.61831	2.024000	0.59613	0.555000	0.69702	CCC		0.657	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1		
VWA2	340706	broad.mit.edu	37	10	116045710	116045710	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:116045710G>T	ENST00000392982.3	+	11	1260	c.1010G>T	c.(1009-1011)aGc>aTc	p.S337I	VWA2_ENST00000603594.1_Missense_Mutation_p.S337I			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	337					calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)	p.S337I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CTGAAGCTGAGCCTGGAATGC	0.617																																					p.S337I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1010T	10						.						60.0	51.0	54.0					10																	116045710		2203	4300	6503	116035700	SO:0001583	missense	340706	exon11			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1010G>T	10.37:g.116045710G>T	ENSP00000376708:p.Ser337Ile		116035700	NM_198496	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37		.	.	.	.	.	.	.	.	.	.	G	16.97	3.269501	0.59540	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.77620	-1.11	5.8	3.97	0.46021	.	0.111909	0.64402	D	0.000003	T	0.81847	0.4909	L	0.39566	1.225	0.27961	N	0.936787	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.74657	-0.3592	10	0.40728	T	0.16	.	12.2134	0.54391	0.139:0.0:0.861:0.0	.	33;337;337	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	I	337	ENSP00000376708:S337I	ENSP00000298715:S337I	S	+	2	0	VWA2	116035700	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	4.102000	0.57776	0.811000	0.34303	-0.259000	0.10710	AGC		0.617	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496	
GFRA1	2674	broad.mit.edu	37	10	117825111	117825111	+	Silent	SNP	C	C	T	rs374656900		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:117825111C>T	ENST00000355422.6	-	10	1774	c.1224G>A	c.(1222-1224)tcG>tcA	p.S408S	GFRA1_ENST00000369236.1_Silent_p.S403S|GFRA1_ENST00000439649.3_Silent_p.S403S|GFRA1_ENST00000544592.1_Silent_p.S287S	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	408					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.S403S(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)		GTGTATTGCCCGACACATTGG	0.433																																					p.S403S	Ovarian(128;329 1725 45498 46808 50759)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1209A	10						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	95.0	86.0	89.0		1209,1224,1209	-5.9	0.6	10		89	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GFRA1	NM_001145453.1,NM_005264.4,NM_145793.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	403/461,408/466,403/461	117825111	1,13005	2203	4300	6503	117815101	SO:0001819	synonymous_variant	2674	exon9			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.1224G>A	10.37:g.117825111C>T			117815101	NM_001145453	A8KA21|O15507|O43912	Silent	SNP	ENST00000355422.6	37	CCDS44481.1																																																																																				0.433	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793	
DHTKD1	55526	broad.mit.edu	37	10	12131131	12131131	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:12131131G>A	ENST00000263035.4	+	5	926	c.864G>A	c.(862-864)tcG>tcA	p.S288S	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	288					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.S288S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CCAATCCCTCGCACCTGGAGG	0.622																																					p.S288S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G864A	10						.						106.0	90.0	95.0					10																	12131131		2203	4300	6503	12171137	SO:0001819	synonymous_variant	55526	exon5			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.864G>A	10.37:g.12131131G>A			12171137	NM_018706	Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	CCDS7087.1																																																																																				0.622	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706	
FAM45A	404636	broad.mit.edu	37	10	120877150	120877150	+	Missense_Mutation	SNP	G	G	A	rs146864091	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:120877150G>A	ENST00000361432.2	+	4	478	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000535029.1_Missense_Mutation_p.R151Q	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	151								p.R151Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TTTGATGCCCGAAAGGCCTAC	0.493													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19518	0.0		0.0	False		,,,				2504	0.0				p.R151Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G452A	10						.	G	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	84.0	87.0	86.0		452	5.0	1.0	10	dbSNP_134	86	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FAM45A	NM_207009.2	43	0,6,6497	AA,AG,GG		0.0233,0.0908,0.0461	probably-damaging	151/358	120877150	6,13000	2203	4300	6503	120867140	SO:0001583	missense	404636	exon4			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.452G>A	10.37:g.120877150G>A	ENSP00000354688:p.Arg151Gln		120867140	NM_207009	B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	ENST00000361432.2	37	CCDS7609.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	26.3	4.727550	0.89390	9.08E-4	2.33E-4	ENSG00000119979	ENST00000535029;ENST00000546291;ENST00000361432	.	.	.	5.87	4.97	0.65823	.	0.061593	0.64402	N	0.000004	T	0.75072	0.3800	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.65684	0.866;0.937;0.866	T	0.77289	-0.2643	9	0.59425	D	0.04	.	13.1923	0.59717	0.0735:0.0:0.9265:0.0	.	78;143;151	B4DNL9;Q8TCE6-2;Q8TCE6	.;.;FA45A_HUMAN	Q	151	.	ENSP00000354688:R151Q	R	+	2	0	FAM45A	120867140	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	5.917000	0.69989	1.482000	0.48325	0.591000	0.81541	CGA		0.493	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009	
BTBD16	118663	broad.mit.edu	37	10	124094441	124094441	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:124094441T>C	ENST00000260723.4	+	14	1461	c.1210T>C	c.(1210-1212)Ttt>Ctt	p.F404L	BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000368994.2_Missense_Mutation_p.F405L	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	404								p.F404L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TGGATTCTTCTTTAAGATAAA	0.338																																					p.F404L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1210C	10						.						123.0	124.0	123.0					10																	124094441		2202	4299	6501	124084431	SO:0001583	missense	118663	exon14			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1210T>C	10.37:g.124094441T>C	ENSP00000260723:p.Phe404Leu		124084431	NM_144587	A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.003775	0.74932	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.21543	2.0;2.0	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000004	T	0.34774	0.0909	L	0.36672	1.1	0.42148	D	0.991543	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.05566	-1.0877	10	0.42905	T	0.14	-17.1063	12.0596	0.53555	0.0:0.0:0.0:1.0	.	405;404	Q32M84-2;Q32M84	.;BTBDG_HUMAN	L	404;405	ENSP00000260723:F404L;ENSP00000357990:F405L	ENSP00000260723:F404L	F	+	1	0	BTBD16	124084431	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	3.938000	0.56583	2.108000	0.64289	0.533000	0.62120	TTT		0.338	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587	
CPXM2	119587	broad.mit.edu	37	10	125602003	125602003	+	Splice_Site	SNP	G	G	A	rs200954130		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:125602003G>A	ENST00000241305.3	-	4	669	c.515C>T	c.(514-516)gCg>gTg	p.A172V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	172	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.A172V(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)		ATTAATGCCCGCCTAGAAAGA	0.458																																					p.A172V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C515T	10						.						40.0	39.0	39.0					10																	125602003		2203	4300	6503	125591993	SO:0001630	splice_region_variant	119587	exon4			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.514-1C>T	10.37:g.125602003G>A			125591993	NM_198148	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708436	0.68615	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.97328	-4.34	5.24	4.34	0.51931	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.97250	0.9101	L	0.51422	1.61	0.80722	D	1	D	0.67145	0.996	D	0.63877	0.919	D	0.96961	0.9701	10	0.49607	T	0.09	-24.1902	13.783	0.63093	0.0738:0.0:0.9262:0.0	.	172	Q8N436	CPXM2_HUMAN	V	172;5;172	ENSP00000241305:A172V	ENSP00000241305:A172V	A	-	2	0	CPXM2	125591993	1.000000	0.71417	0.968000	0.41197	0.569000	0.35902	9.403000	0.97302	1.204000	0.43247	-0.237000	0.12165	GCG		0.458	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	Missense_Mutation
MKI67	4288	broad.mit.edu	37	10	129904387	129904387	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:129904387G>A	ENST00000368654.3	-	13	6092	c.5717C>T	c.(5716-5718)aCg>aTg	p.T1906M	MKI67_ENST00000368653.3_Missense_Mutation_p.T1546M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1906	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.T1906M(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCTTTAGGCGTGTGCATGGC	0.473																																					p.T1546M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4637T	10						.						266.0	260.0	262.0					10																	129904387		2203	4300	6503	129794377	SO:0001583	missense	4288	exon12			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5717C>T	10.37:g.129904387G>A	ENSP00000357643:p.Thr1906Met		129794377	NM_001145966	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972398	0.34848	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03301	3.98;3.98	2.96	1.02	0.19986	.	1.106030	0.07176	U	0.853270	T	0.12475	0.0303	M	0.67397	2.05	0.09310	N	1	D;D;D	0.89917	0.972;1.0;1.0	B;D;D	0.78314	0.365;0.991;0.989	T	0.22452	-1.0216	10	0.52906	T	0.07	.	2.4661	0.04553	0.2632:0.0:0.4978:0.239	.	1905;1546;1906	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	1906;1546;1905	ENSP00000357643:T1906M;ENSP00000357642:T1546M	ENSP00000357642:T1546M	T	-	2	0	MKI67	129794377	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.151000	0.16283	0.274000	0.22072	0.561000	0.74099	ACG		0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MGMT	4255	broad.mit.edu	37	10	131334603	131334603	+	Silent	SNP	C	C	T	rs572781091		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:131334603C>T	ENST00000306010.7	+	2	212	c.180C>T	c.(178-180)caC>caT	p.H60H		NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	29					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)	p.H29H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	AGGGTCTGCACGAAATAAAGC	0.512								Direct reversal of damage					C|||	1	0.000199681	0.0008	0.0	5008	,	,		18383	0.0		0.0	False		,,,				2504	0.0				p.H60H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C180T	10						.						102.0	88.0	92.0					10																	131334603		2203	4300	6503	131224593	SO:0001819	synonymous_variant	4255	exon2			M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.180C>T	10.37:g.131334603C>T			131224593	NM_002412	Q5VY78	Silent	SNP	ENST00000306010.7	37	CCDS7660.2																																																																																				0.512	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412	
GLRX3	10539	broad.mit.edu	37	10	131959258	131959258	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:131959258T>C	ENST00000368644.1	+	4	497	c.475T>C	c.(475-477)Tgt>Cgt	p.C159R	GLRX3_ENST00000331244.5_Missense_Mutation_p.C159R	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	159	Glutaredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)	p.C159R(2)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		AGAACCACGCTGTGGTAAGAA	0.428																																					p.C159R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T475C	10						.						60.0	58.0	59.0					10																	131959258		2203	4300	6503	131849248	SO:0001583	missense	10539	exon4			AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.475T>C	10.37:g.131959258T>C	ENSP00000357633:p.Cys159Arg		131849248	NM_001199868	B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	37	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.279077	0.59758	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.73681	-0.77;-0.77	4.39	4.39	0.52855	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.87732	0.6251	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90149	0.4219	10	0.87932	D	0	-4.8758	12.9885	0.58606	0.0:0.0:0.0:1.0	.	159	O76003	GLRX3_HUMAN	R	159	ENSP00000330836:C159R;ENSP00000357633:C159R	ENSP00000330836:C159R	C	+	1	0	GLRX3	131849248	1.000000	0.71417	0.978000	0.43139	0.472000	0.32918	7.395000	0.79876	1.854000	0.53819	0.533000	0.62120	TGT		0.428	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541	
PPP2R2D	55844	broad.mit.edu	37	10	133757518	133757518	+	5'UTR	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:133757518G>A	ENST00000422256.2	+	0	328				PPP2R2D_ENST00000470416.1_Intron			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.R144Q(2)		endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GCGAGTCCACGGCGAATTTTT	0.348																																					p.T142T												.	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.G426A	10						.						121.0	105.0	110.0					10																	133757518		1852	4092	5944	133607508	SO:0001623	5_prime_UTR_variant	55844	exon4			AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.-158G>A	10.37:g.133757518G>A			133607508	NM_018461	A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	ENST00000422256.2	37		.	.	.	.	.	.	.	.	.	.	G	34	5.298683	0.95574	.	.	ENSG00000175470	ENST00000455566	T	0.36340	1.26	3.78	3.78	0.43462	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	.	.	.	0.80722	D	1	D	0.71674	0.998	P	0.54965	0.765	T	0.62407	-0.6861	9	0.87932	D	0	-13.7349	16.2203	0.82255	0.0:0.0:1.0:0.0	.	175	Q66LE6	2ABD_HUMAN	Q	144	ENSP00000399970:R144Q	ENSP00000399970:R144Q	R	+	2	0	PPP2R2D	133607508	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	6.762000	0.74950	2.126000	0.65437	0.655000	0.94253	CGG		0.348	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_018461	
JAKMIP3	282973	broad.mit.edu	37	10	133931058	133931058	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:133931058G>A	ENST00000298622.4	+	2	751	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	205						Golgi apparatus (GO:0005794)		p.E205K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAAggagtgcgagcgggagat	0.697																																					p.E205K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G613A	10						.						13.0	15.0	14.0					10																	133931058		2032	4153	6185	133781048	SO:0001583	missense	282973	exon2			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.613G>A	10.37:g.133931058G>A	ENSP00000298622:p.Glu205Lys		133781048	NM_001105521	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351282	0.95830	.	.	ENSG00000188385	ENST00000298622	T	0.12255	2.7	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	M	0.67700	2.07	0.53688	D	0.999976	D	0.89917	1.0	D	0.80764	0.994	T	0.04400	-1.0954	10	0.38643	T	0.18	-42.5123	17.7631	0.88470	0.0:0.0:1.0:0.0	.	205	Q5VZ66	JKIP3_HUMAN	K	205	ENSP00000298622:E205K	ENSP00000298622:E205K	E	+	1	0	JAKMIP3	133781048	1.000000	0.71417	0.987000	0.45799	0.914000	0.54420	9.079000	0.94032	2.419000	0.82065	0.591000	0.81541	GAG		0.697	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	
JAKMIP3	282973	broad.mit.edu	37	10	133946947	133946947	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:133946947G>T	ENST00000298622.4	+	3	903	c.765G>T	c.(763-765)gaG>gaT	p.E255D		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	255						Golgi apparatus (GO:0005794)		p.E255D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGTCCGAGAGGCCGACCGGC	0.617																																					p.E255D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G765T	10						.						24.0	28.0	26.0					10																	133946947		1956	4138	6094	133796937	SO:0001583	missense	282973	exon3			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.765G>T	10.37:g.133946947G>T	ENSP00000298622:p.Glu255Asp		133796937	NM_001105521	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806613	0.70682	.	.	ENSG00000188385	ENST00000298622	T	0.50813	0.73	4.5	4.5	0.54988	.	0.056837	0.64402	D	0.000001	T	0.42063	0.1186	L	0.46157	1.445	0.33225	D	0.555222	B	0.29115	0.233	B	0.25987	0.065	T	0.52185	-0.8609	10	0.24483	T	0.36	-32.8063	17.3619	0.87353	0.0:0.0:1.0:0.0	.	255	Q5VZ66	JKIP3_HUMAN	D	255	ENSP00000298622:E255D	ENSP00000298622:E255D	E	+	3	2	JAKMIP3	133796937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.112000	0.77086	2.328000	0.79073	0.563000	0.77884	GAG		0.617	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	
PFKP	5214	broad.mit.edu	37	10	3155602	3155602	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:3155602C>T	ENST00000381125.4	+	13	1339	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P	PFKP_ENST00000381075.2_Silent_p.P413P	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	421	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)	p.P421P(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TGGGGGCACCCGCGGCTGGGA	0.607																																					p.P421P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1263T	10						.						42.0	38.0	40.0					10																	3155602		2203	4300	6503	3145602	SO:0001819	synonymous_variant	5214	exon13			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1263C>T	10.37:g.3155602C>T			3145602	NM_002627	B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	CCDS7059.1																																																																																				0.607	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627	
TAF3	83860	broad.mit.edu	37	10	8006792	8006792	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:8006792C>T	ENST00000344293.5	+	3	1525	c.1319C>T	c.(1318-1320)gCg>gTg	p.A440V		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	440					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.A440V(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TCCACTTCCGCGAACAATTTC	0.463																																					p.A440V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1319T	10						.						79.0	80.0	80.0					10																	8006792		1911	4129	6040	8046798	SO:0001583	missense	83860	exon3			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1319C>T	10.37:g.8006792C>T	ENSP00000340271:p.Ala440Val		8046798	NM_031923	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	C	3.898	-0.022613	0.07634	.	.	ENSG00000165632	ENST00000344293	T	0.17854	2.25	5.51	3.67	0.42095	.	0.858259	0.10226	N	0.700245	T	0.11367	0.0277	N	0.22421	0.69	0.09310	N	1	B	0.20780	0.048	B	0.09377	0.004	T	0.33240	-0.9876	10	0.29301	T	0.29	-6.1066	7.5875	0.28002	0.0:0.7204:0.1354:0.1442	.	440	Q5VWG9	TAF3_HUMAN	V	440	ENSP00000340271:A440V	ENSP00000340271:A440V	A	+	2	0	TAF3	8046798	0.074000	0.21230	0.021000	0.16686	0.109000	0.19521	2.032000	0.41127	0.701000	0.31803	0.650000	0.86243	GCG		0.463	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923	
DCLRE1C	64421	broad.mit.edu	37	10	14964984	14964984	+	Missense_Mutation	SNP	C	C	T	rs541855040		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:14964984C>T	ENST00000378278.2	-	12	1094	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	DCLRE1C_ENST00000453695.2_Missense_Mutation_p.E233K|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.E238K|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.E233K|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.E353K|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.E233K|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.E233K|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.E6K|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.E238K|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.E233K|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.E238K			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	353					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.E238K(1)|p.E353K(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						ACTCACATTTCGACAACTTTA	0.423								Non-homologous end-joining																													p.E353K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1057A	10						.						129.0	110.0	116.0					10																	14964984		2203	4300	6503	15004990	SO:0001583	missense	64421	exon12			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.1057G>A	10.37:g.14964984C>T	ENSP00000367527:p.Glu353Lys		15004990	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	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997465	0.54147	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.76448	-0.94;-0.46;-0.47;-0.47;-0.47;-0.46;-0.46;-0.46;-1.02;-0.46	5.47	5.47	0.80525	.	0.269558	0.42420	D	0.000705	T	0.68586	0.3017	L	0.54323	1.7	0.40449	D	0.980121	B;P;B	0.36249	0.021;0.545;0.106	B;B;B	0.23716	0.011;0.048;0.007	T	0.70160	-0.4948	10	0.37606	T	0.19	.	12.6387	0.56696	0.0:0.9232:0.0:0.0768	.	353;238;353	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	K	353;233;238;238;238;233;233;233;353;233;6	ENSP00000367538:E353K;ENSP00000400529:E233K;ENSP00000367492:E238K;ENSP00000350349:E238K;ENSP00000367496:E238K;ENSP00000380030:E233K;ENSP00000367503:E233K;ENSP00000367502:E233K;ENSP00000367527:E353K;ENSP00000367506:E233K	ENSP00000350349:E238K	E	-	1	0	DCLRE1C	15004990	0.986000	0.35501	0.961000	0.40146	0.911000	0.54048	2.512000	0.45485	2.726000	0.93360	0.655000	0.94253	GAA		0.423	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487	
CUBN	8029	broad.mit.edu	37	10	16975162	16975162	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:16975162G>A	ENST00000377833.4	-	40	6113	c.6048C>T	c.(6046-6048)acC>acT	p.T2016T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2016	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.T2016T(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAGTTCCACGGTAGAGTCGG	0.507																																					p.T2016T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6048T	10						.						133.0	116.0	122.0					10																	16975162		2203	4300	6503	17015168	SO:0001819	synonymous_variant	8029	exon40			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6048C>T	10.37:g.16975162G>A			17015168	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.507	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
TRDMT1	1787	broad.mit.edu	37	10	17191103	17191103	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:17191103C>T	ENST00000377799.3	-	11	1159	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	TRDMT1_ENST00000412821.3_Missense_Mutation_p.R347H|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.R325H|TRDMT1_ENST00000452380.2_5'Flank|TRDMT1_ENST00000457442.2_Missense_Mutation_p.R290H|TRDMT1_ENST00000358282.7_3'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	371	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)	p.R371H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	TCCAAGTAGGCGATAACGCTG	0.303																																					p.R371H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1112A	10						.						67.0	67.0	67.0					10																	17191103		2202	4297	6499	17231109	SO:0001583	missense	1787	exon11			AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.1112G>A	10.37:g.17191103C>T	ENSP00000367030:p.Arg371His		17231109	NM_004412	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	CCDS7114.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141730	0.94560	.	.	ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000351358;ENST00000457442	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.63	5.63	0.86233	.	0.051406	0.85682	D	0.000000	D	0.92648	0.7664	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;P;P	0.77557	0.99;0.983;0.718;0.815	D	0.91985	0.5598	10	0.51188	T	0.08	-5.7722	20.0499	0.97621	0.0:1.0:0.0:0.0	.	290;325;347;371	E7EMI8;O14717-3;O14717-2;O14717	.;.;.;TRDMT_HUMAN	H	371;347;325;290	ENSP00000367030:R371H;ENSP00000409354:R347H;ENSP00000324328:R325H;ENSP00000412256:R290H	ENSP00000324328:R325H	R	-	2	0	TRDMT1	17231109	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.169000	0.64984	2.798000	0.96311	0.655000	0.94253	CGC		0.303	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412	
NEBL	10529	broad.mit.edu	37	10	21124510	21124510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:21124510C>A	ENST00000377122.4	-	14	1777	c.1381G>T	c.(1381-1383)Gga>Tga	p.G461*	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	461					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.G461*(2)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCTTGCATTCCTTTCCCTTTA	0.448																																					p.G461X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|kidney(1)	c.G1381T	10						.						259.0	236.0	244.0					10																	21124510		2203	4300	6503	21164516	SO:0001587	stop_gained	10529	exon14			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1381G>T	10.37:g.21124510C>A	ENSP00000366326:p.Gly461*		21164516	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Nonsense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	42	9.599904	0.99216	.	.	ENSG00000078114	ENST00000377122	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	18.0946	0.89485	0.0:1.0:0.0:0.0	.	.	.	.	X	461	.	ENSP00000366326:G461X	G	-	1	0	NEBL	21164516	1.000000	0.71417	0.997000	0.53966	0.848000	0.48234	5.828000	0.69307	2.380000	0.81148	0.505000	0.49811	GGA		0.448	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
PTCHD3	374308	broad.mit.edu	37	10	27703118	27703118	+	Missense_Mutation	SNP	G	G	A	rs115676272	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:27703118G>A	ENST00000438700.3	-	1	179	c.62C>T	c.(61-63)cCg>cTg	p.P21L		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	21					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.P21L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGCAGAGTCCGGTTTGGTGAG	0.652																																					p.P21L												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C62T	10						.						56.0	68.0	64.0					10																	27703118		2203	4300	6503	27743124	SO:0001583	missense	374308	exon1			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.62C>T	10.37:g.27703118G>A	ENSP00000417658:p.Pro21Leu		27743124	NM_001034842	I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648307	0.29336	.	.	ENSG00000182077	ENST00000438700	D	0.89939	-2.59	2.12	-4.23	0.03789	.	.	.	.	.	T	0.71367	0.3331	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47898	-0.9081	9	0.39692	T	0.17	.	2.405	0.04410	0.1221:0.2341:0.4353:0.2085	.	21	Q3KNS1	PTHD3_HUMAN	L	21	ENSP00000417658:P21L	ENSP00000417658:P21L	P	-	2	0	PTCHD3	27743124	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	-0.914000	0.04038	-3.544000	0.00144	-2.875000	0.00098	CCG		0.652	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541	
SVIL	6840	broad.mit.edu	37	10	29782301	29782301	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:29782301C>T	ENST00000355867.4	-	21	4613	c.3861G>A	c.(3859-3861)acG>acA	p.T1287T	SVIL_ENST00000375398.2_Silent_p.T1287T|SVIL_ENST00000375400.3_Silent_p.T861T|SVIL_ENST00000538146.1_Silent_p.T79T|SVIL_ENST00000535393.1_Silent_p.T201T	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1287					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.T1287T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CAGTGAGCACCGTTTCGTGCA	0.393																																					p.T861T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2583A	10						.						87.0	81.0	83.0					10																	29782301		2203	4300	6503	29822307	SO:0001819	synonymous_variant	6840	exon19			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3861G>A	10.37:g.29782301C>T			29822307	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	CCDS7164.1																																																																																				0.393	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
KIAA1462	57608	broad.mit.edu	37	10	30318177	30318177	+	Silent	SNP	C	C	T	rs372892398		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:30318177C>T	ENST00000375377.1	-	3	1001	c.900G>A	c.(898-900)tcG>tcA	p.S300S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	300	Pro-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.S300S(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTGCTGGTGCGAGCTGTAAG	0.592																																					p.S300S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G900A	10						.	C		1,4037		0,1,2018	70.0	73.0	72.0		900	-9.5	0.0	10		72	0,8338		0,0,4169	no	coding-synonymous	KIAA1462	NM_020848.2		0,1,6187	TT,TC,CC		0.0,0.0248,0.0081		300/1360	30318177	1,12375	2019	4169	6188	30358183	SO:0001819	synonymous_variant	57608	exon3			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.900G>A	10.37:g.30318177C>T			30358183	NM_020848	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	CCDS41500.1																																																																																				0.592	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
ZEB1	6935	broad.mit.edu	37	10	31815861	31815861	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:31815861C>T	ENST00000320985.10	+	9	3154	c.3044C>T	c.(3043-3045)gCg>gTg	p.A1015V	ZEB1_ENST00000361642.5_Missense_Mutation_p.A1016V|ZEB1_ENST00000446923.2_Missense_Mutation_p.A999V|ZEB1_ENST00000542815.3_Missense_Mutation_p.A948V|ZEB1_ENST00000560721.2_Missense_Mutation_p.A995V			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1015	Glu-rich (acidic).				cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A1015V(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GGTGCCAGGGCGTCTCCCTCA	0.537																																					p.A995V	Ovarian(40;423 959 14296 36701 49589)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2984T	10						.						71.0	65.0	67.0					10																	31815861		2203	4300	6503	31855867	SO:0001583	missense	6935	exon8			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.3044C>T	10.37:g.31815861C>T	ENSP00000319248:p.Ala1015Val		31855867	NM_001174093	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	0.091	-1.167596	0.01660	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12774	2.96;2.65;2.7;2.65;2.69	4.57	0.395	0.16304	.	1.576300	0.04093	N	0.311636	T	0.07593	0.0191	N	0.13043	0.29	0.20196	N	0.999926	B;B;B;B;B	0.14805	0.011;0.004;0.003;0.004;0.002	B;B;B;B;B	0.15484	0.013;0.002;0.002;0.001;0.001	T	0.33954	-0.9848	10	0.25106	T	0.35	-1.54	2.0609	0.03592	0.2708:0.4436:0.1368:0.1488	.	948;999;995;1016;1015	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	V	797;1015;1016;1010;948;1015;995;906;999	ENSP00000444282:A797V;ENSP00000354487:A1016V;ENSP00000444891:A948V;ENSP00000319248:A1015V;ENSP00000391612:A999V	ENSP00000319248:A1015V	A	+	2	0	ZEB1	31855867	0.648000	0.27313	0.035000	0.18076	0.019000	0.09904	1.334000	0.33827	0.033000	0.15463	-0.474000	0.04947	GCG		0.537	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751	
CCNY	219771	broad.mit.edu	37	10	35772401	35772401	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:35772401C>T	ENST00000374704.4	+	2	404	c.224C>T	c.(223-225)aCg>aTg	p.T75M	CCNY_ENST00000339497.5_Intron|CCNY_ENST00000374706.1_Missense_Mutation_p.T21M|CCNY_ENST00000265375.9_Missense_Mutation_p.T21M|CCNY_ENST00000492478.1_3'UTR	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	75					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.T21M(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						AAATCTCAGACGGACGGTAGG	0.343																																					p.T75M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C224T	10						.						86.0	82.0	84.0					10																	35772401		2203	4300	6503	35812407	SO:0001583	missense	219771	exon2			AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.224C>T	10.37:g.35772401C>T	ENSP00000363836:p.Thr75Met		35812407	NM_145012	B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	ENST00000374704.4	37	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589431	0.46214	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000265375	T;T;T	0.32988	1.44;1.43;1.44	5.84	5.84	0.93424	.	0.046365	0.85682	D	0.000000	T	0.44932	0.1317	L	0.41824	1.3	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	T	0.05550	-1.0878	10	0.17369	T	0.5	-0.7518	18.9061	0.92462	0.0:1.0:0.0:0.0	.	75	Q8ND76	CCNY_HUMAN	M	21;75;75;21	ENSP00000363838:T21M;ENSP00000363836:T75M;ENSP00000265375:T21M	ENSP00000265375:T21M	T	+	2	0	CCNY	35812407	1.000000	0.71417	0.966000	0.40874	0.602000	0.36980	4.795000	0.62489	2.765000	0.95021	0.655000	0.94253	ACG		0.343	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698	
ANKRD30A	91074	broad.mit.edu	37	10	37430724	37430724	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:37430724delA	ENST00000602533.1	+	7	830	c.731delA	c.(730-732)gaafs	p.E244fs	ANKRD30A_ENST00000374660.1_Frame_Shift_Del_p.E244fs|ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.E244fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	300					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E244G(1)|p.T246fs*95(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGCTTGGTGGAAAAAACACCT	0.512																																					p.E244fs												.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|endometrium(1)	c.731delA	10						.						43.0	45.0	44.0					10																	37430724		1870	4099	5969	37470730	SO:0001589	frameshift_variant	91074	exon7			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.731delA	10.37:g.37430724delA	ENSP00000473551:p.Glu244fs		37470730	NM_052997	Q5W025	Frame_Shift_Del	DEL	ENST00000602533.1	37																																																																																					0.512	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
ZNF33A	7581	broad.mit.edu	37	10	38305877	38305877	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:38305877G>A	ENST00000458705.2	+	3	246	c.88G>A	c.(88-90)Gac>Aac	p.D30N	ZNF33A_ENST00000374618.3_Missense_Mutation_p.D30N|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000307441.9_Missense_Mutation_p.D30N|ZNF33A_ENST00000432900.2_Missense_Mutation_p.D37N|ZNF33A_ENST00000469037.2_Missense_Mutation_p.D30N			Q06730	ZN33A_HUMAN	zinc finger protein 33A	30	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.D30N(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GCAGCACCTGGACCCTAGTCA	0.468																																					p.D30N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G88A	10						.						64.0	65.0	65.0					10																	38305877		2203	4297	6500	38345883	SO:0001583	missense	7581	exon3			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.88G>A	10.37:g.38305877G>A	ENSP00000387713:p.Asp30Asn		38345883	NM_006954	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330764	0.41297	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000277672;ENST00000307441	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	3.64	3.64	0.41730	Krueppel-associated box (4);	.	.	.	.	T	0.61837	0.2379	L	0.54863	1.705	0.09310	N	1	D;D;D;D	0.76494	0.996;0.965;0.999;0.999	D;P;D;D	0.79784	0.993;0.896;0.958;0.967	T	0.49818	-0.8899	9	0.72032	D	0.01	.	11.0139	0.47677	0.0:0.0:1.0:0.0	.	37;30;30;30	F6TH33;Q9H5I4;Q06730;F8WAJ5	.;.;ZN33A_HUMAN;.	N	30;37;30;30;30	ENSP00000363747:D30N;ENSP00000402467:D37N;ENSP00000387713:D30N;ENSP00000304268:D30N	ENSP00000277672:D30N	D	+	1	0	ZNF33A	38345883	0.979000	0.34478	0.227000	0.23927	0.739000	0.42172	2.764000	0.47613	2.047000	0.60756	0.462000	0.41574	GAC		0.468	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974	
RASGEF1A	221002	broad.mit.edu	37	10	43695125	43695125	+	Splice_Site	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:43695125C>T	ENST00000395809.1	-	7	3354	c.848G>A	c.(847-849)cGg>cAg	p.R283Q	RASGEF1A_ENST00000374459.1_Splice_Site_p.R291Q|RASGEF1A_ENST00000472864.1_5'Flank|RASGEF1A_ENST00000395810.1_Splice_Site_p.R283Q			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	283	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R230Q(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGCACTTACCCGGCACACCTC	0.577																																					p.R283Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G848A	10						.						84.0	62.0	69.0					10																	43695125		2203	4300	6503	43015131	SO:0001630	splice_region_variant	221002	exon7			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.849+1G>A	10.37:g.43695125C>T			43015131	NM_145313	Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043826	0.55110	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.29917	1.55;1.55;1.55	5.1	5.1	0.69264	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.080882	0.49916	D	0.000127	T	0.20210	0.0486	N	0.12422	0.21	0.48341	D	0.999638	B;P	0.49253	0.428;0.921	B;P	0.45913	0.117;0.497	T	0.01874	-1.1256	10	0.34782	T	0.22	.	9.3278	0.38003	0.0:0.8397:0.0:0.1603	.	283;291	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	Q	291;283;283	ENSP00000363583:R291Q;ENSP00000379155:R283Q;ENSP00000379154:R283Q	ENSP00000363583:R291Q	R	-	2	0	RASGEF1A	43015131	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.806000	0.55583	2.352000	0.79861	0.655000	0.94253	CGG		0.577	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313	Missense_Mutation
RBP3	5949	broad.mit.edu	37	10	48385873	48385873	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:48385873G>A	ENST00000224600.4	-	2	3332	c.3219C>T	c.(3217-3219)caC>caT	p.H1073H	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1073	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.H1073H(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGCATCCGTGTGCATGATCT	0.567																																					p.H1073H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3219T	10						.						116.0	97.0	104.0					10																	48385873		2203	4300	6503	48005879	SO:0001819	synonymous_variant	5949	exon2			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3219C>T	10.37:g.48385873G>A			48005879	NM_002900	Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	CCDS7218.1																																																																																				0.567	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900	
MAPK8	5599	broad.mit.edu	37	10	49609719	49609719	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:49609719C>T	ENST00000374189.1	+	2	197	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	MAPK8_ENST00000360332.3_Missense_Mutation_p.R6C|MAPK8_ENST00000395611.3_Missense_Mutation_p.R6C|MAPK8_ENST00000374174.1_Missense_Mutation_p.R6C|MAPK8_ENST00000374182.3_Missense_Mutation_p.R6C			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	6					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.R6C(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)		CAGAAGCAAGCGTGACAACAA	0.363																																					p.R6C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C16T	10						.						84.0	82.0	83.0					10																	49609719		2203	4300	6503	49279725	SO:0001583	missense	5599	exon1			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.16C>T	10.37:g.49609719C>T	ENSP00000363304:p.Arg6Cys		49279725	NM_002750	B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067947	0.36470	.	.	ENSG00000107643	ENST00000432379;ENST00000374189;ENST00000426557;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	T;T;T;T;T;T;T;T;T	0.76060	3.04;-0.98;3.04;-0.96;-0.96;-0.98;-0.99;-0.9;-0.81	5.65	3.81	0.43845	.	0.055094	0.64402	D	0.000001	T	0.60444	0.2269	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B	0.12630	0.0;0.002;0.004;0.004;0.006	B;B;B;B;B	0.06405	0.001;0.002;0.001;0.002;0.002	T	0.56032	-0.8046	10	0.48119	T	0.1	.	12.0415	0.53456	0.0:0.8626:0.0:0.1374	.	6;6;6;6;6	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	C	6	ENSP00000387936:R6C;ENSP00000363304:R6C;ENSP00000397729:R6C;ENSP00000363297:R6C;ENSP00000363294:R6C;ENSP00000353483:R6C;ENSP00000363291:R6C;ENSP00000363289:R6C;ENSP00000378974:R6C	ENSP00000353483:R6C	R	+	1	0	MAPK8	49279725	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	2.322000	0.43814	0.944000	0.37579	0.655000	0.94253	CGT		0.363	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1		
ARHGAP22	58504	broad.mit.edu	37	10	49659110	49659110	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:49659110C>T	ENST00000249601.4	-	9	1358	c.1062G>A	c.(1060-1062)ccG>ccA	p.P354P	ARHGAP22_ENST00000477708.2_Silent_p.P187P|ARHGAP22_ENST00000374170.1_Silent_p.P195P|ARHGAP22_ENST00000435790.2_Silent_p.P360P|ARHGAP22_ENST00000417912.2_Silent_p.P370P|ARHGAP22_ENST00000417247.2_Silent_p.P264P|ARHGAP22_ENST00000374172.1_Silent_p.P245P	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	354					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.P354P(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGGCCCTTCCGGGACCGGTG	0.711																																					p.P354P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1062A	10						.						12.0	15.0	14.0					10																	49659110		2057	4120	6177	49329116	SO:0001819	synonymous_variant	58504	exon9			AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.1062G>A	10.37:g.49659110C>T			49329116	NM_021226	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	ENST00000249601.4	37	CCDS7227.1																																																																																				0.711	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226	
ARID5B	84159	broad.mit.edu	37	10	63852161	63852161	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:63852161A>G	ENST00000279873.7	+	10	3349	c.2939A>G	c.(2938-2940)cAt>cGt	p.H980R	ARID5B_ENST00000309334.5_Missense_Mutation_p.H737R	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	980					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.H980R(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)					AAACCTCACCATGTGAGACTG	0.532																																					p.H980R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2939G	10						.						71.0	77.0	75.0					10																	63852161		2203	4300	6503	63522167	SO:0001583	missense	84159	exon10			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.2939A>G	10.37:g.63852161A>G	ENSP00000279873:p.His980Arg		63522167	NM_032199	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	9.965	1.223933	0.22457	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.42513	0.97;0.97	5.59	4.45	0.53987	.	0.644721	0.16294	N	0.220759	T	0.35653	0.0939	L	0.44542	1.39	0.22562	N	0.998987	B	0.17038	0.02	B	0.11329	0.006	T	0.25676	-1.0125	10	0.49607	T	0.09	-7.75	10.5207	0.44918	0.6407:0.3593:0.0:0.0	.	980	Q14865	ARI5B_HUMAN	R	980;737	ENSP00000279873:H980R;ENSP00000308862:H737R	ENSP00000279873:H980R	H	+	2	0	ARID5B	63522167	0.889000	0.30405	0.969000	0.41365	0.992000	0.81027	1.743000	0.38258	0.954000	0.37851	0.460000	0.39030	CAT		0.532	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	
EGR2	1959	broad.mit.edu	37	10	64573428	64573428	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:64573428G>A	ENST00000242480.3	-	2	1295	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	EGR2_ENST00000439032.1_Missense_Mutation_p.R324C|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000411732.1_Missense_Mutation_p.R274C	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	324					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.R324C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGTACTTGCGAGGCCTCAGA	0.692																																					p.R324C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C970T	10						.						31.0	35.0	34.0					10																	64573428		2203	4300	6503	64243434	SO:0001583	missense	1959	exon2			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.970C>T	10.37:g.64573428G>A	ENSP00000242480:p.Arg324Cys		64243434	NM_000399	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245572	0.59103	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732	T;T;T	0.14893	2.47;2.47;2.53	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.25152	-1.0140	10	0.87932	D	0	-19.114	12.2484	0.54585	0.0:0.0:0.8299:0.1701	.	274;324	P11161-2;P11161	.;EGR2_HUMAN	C	324;324;274	ENSP00000242480:R324C;ENSP00000402040:R324C;ENSP00000387634:R274C	ENSP00000242480:R324C	R	-	1	0	EGR2	64243434	0.880000	0.30214	1.000000	0.80357	0.999000	0.98932	0.738000	0.26158	2.570000	0.86706	0.655000	0.94253	CGC		0.692	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399	
CCAR1	55749	broad.mit.edu	37	10	70525679	70525679	+	Missense_Mutation	SNP	G	G	A	rs561113593		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:70525679G>A	ENST00000265872.6	+	17	2260	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CCAR1_ENST00000535016.1_Missense_Mutation_p.R699H|CCAR1_ENST00000543719.1_Missense_Mutation_p.R699H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	714	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.R714H(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GAAATAGAACGCCAGCGTCGA	0.383																																					p.R714H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2141A	10						.						93.0	84.0	87.0					10																	70525679		2203	4300	6503	70195685	SO:0001583	missense	55749	exon17			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2141G>A	10.37:g.70525679G>A	ENSP00000265872:p.Arg714His		70195685	NM_018237	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.105888	0.56291	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.2	3.33	0.38152	.	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	M	0.66939	2.045	0.49130	D	0.999755	B;B;B	0.13145	0.007;0.0;0.001	B;B;B	0.08055	0.003;0.001;0.003	T	0.04454	-1.0950	10	0.72032	D	0.01	-4.0512	10.5262	0.44950	0.0727:0.1343:0.793:0.0	.	699;714;688	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	H	714;699;699;699;688;519	ENSP00000265872:R714H;ENSP00000441820:R699H;ENSP00000445254:R699H;ENSP00000439252:R699H;ENSP00000438610:R688H;ENSP00000439642:R519H	ENSP00000265872:R714H	R	+	2	0	CCAR1	70195685	1.000000	0.71417	0.995000	0.50966	0.625000	0.37756	9.668000	0.98619	0.564000	0.29238	-0.175000	0.13238	CGC		0.383	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237	
DDX50	79009	broad.mit.edu	37	10	70706228	70706228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:70706228C>T	ENST00000373585.3	+	15	2163	c.2056C>T	c.(2056-2058)Cga>Tga	p.R686*	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	686	Arg-rich.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R686*(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GTCAAGTGGTCGATCAGGCCG	0.512																																					p.R686X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2056T	10						.						37.0	38.0	37.0					10																	70706228		2203	4300	6503	70376234	SO:0001587	stop_gained	79009	exon15			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.2056C>T	10.37:g.70706228C>T	ENSP00000362687:p.Arg686*		70376234	NM_024045	Q5VX37|Q8WV76|Q9BWI8	Nonsense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835370	0.91117	.	.	ENSG00000107625	ENST00000373585	.	.	.	4.16	2.09	0.27110	.	0.567803	0.19309	N	0.117435	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.796	8.6244	0.33881	0.5313:0.4687:0.0:0.0	.	.	.	.	X	686	.	ENSP00000362687:R686X	R	+	1	2	DDX50	70376234	0.992000	0.36948	0.115000	0.21578	0.960000	0.62799	2.190000	0.42630	0.400000	0.25396	0.467000	0.42956	CGA		0.512	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045	
ADAMTS14	140766	broad.mit.edu	37	10	72517806	72517806	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:72517806G>T	ENST00000373207.1	+	20	3026	c.3026G>T	c.(3025-3027)aGg>aTg	p.R1009M	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R1012M	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1009	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1012M(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GAGGGGGATAGGCCAGACACT	0.652																																					p.R1009M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3026T	10						.						44.0	42.0	42.0					10																	72517806		2203	4300	6503	72187812	SO:0001583	missense	140766	exon20			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3026G>T	10.37:g.72517806G>T	ENSP00000362303:p.Arg1009Met		72187812	NM_080722	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343540	0.41498	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.53423	0.62;0.62	4.34	0.74	0.18330	.	0.274613	0.33670	N	0.004665	T	0.53786	0.1818	M	0.64997	1.995	0.30840	N	0.735752	P;P	0.42556	0.783;0.783	P;P	0.53450	0.726;0.726	T	0.57929	-0.7726	10	0.87932	D	0	.	7.8439	0.29414	0.7396:0.0:0.2604:0.0	.	1009;1012	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	M	1012;1009	ENSP00000362304:R1012M;ENSP00000362303:R1009M	ENSP00000362303:R1009M	R	+	2	0	ADAMTS14	72187812	1.000000	0.71417	0.104000	0.21259	0.205000	0.24178	5.198000	0.65147	-0.033000	0.13736	-0.367000	0.07326	AGG		0.652	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	
ADAMTS14	140766	broad.mit.edu	37	10	72520415	72520415	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:72520415C>A	ENST00000373207.1	+	22	3478	c.3478C>A	c.(3478-3480)Cca>Aca	p.P1160T	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.P1163T	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1160	Pro-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1163T(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TACAAGCTCCCCAGGGACCCA	0.637																																					p.P1160T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3478A	10						.						60.0	59.0	60.0					10																	72520415		2203	4300	6503	72190421	SO:0001583	missense	140766	exon22			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3478C>A	10.37:g.72520415C>A	ENSP00000362303:p.Pro1160Thr		72190421	NM_080722	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	3.790	-0.043897	0.07452	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61158	0.13;0.16	4.44	0.853	0.19001	.	1.374990	0.05540	N	0.565643	T	0.41789	0.1174	L	0.29908	0.895	0.09310	N	1	B;B	0.24186	0.099;0.099	B;B	0.21917	0.037;0.037	T	0.19031	-1.0318	10	0.20046	T	0.44	.	4.6786	0.12724	0.0:0.5116:0.187:0.3014	.	1160;1163	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	T	1163;1160	ENSP00000362304:P1163T;ENSP00000362303:P1160T	ENSP00000362303:P1160T	P	+	1	0	ADAMTS14	72190421	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.116000	0.10724	0.051000	0.15978	0.655000	0.94253	CCA		0.637	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	
C10orf105	414152	broad.mit.edu	37	10	73491943	73491943	+	Intron	SNP	C	C	T	rs568924674		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:73491943C>T	ENST00000398786.2	-	1	97				CDH23_ENST00000224721.6_Silent_p.N1310N	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)		p.N1310N(2)									CTCTGCTCAACGAGCTGGACG	0.577																																					p.N1305N												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C3915T	10						.						66.0	68.0	67.0					10																	73491943		2075	4209	6284	73161949	SO:0001627	intron_variant	64072	exon31			AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.4+5541G>A	10.37:g.73491943C>T			73161949	NM_022124		Silent	SNP	ENST00000398786.2	37	CCDS44430.1																																																																																				0.577	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375	
MYOZ1	58529	broad.mit.edu	37	10	75393754	75393754	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:75393754G>T	ENST00000359322.4	-	5	936	c.572C>A	c.(571-573)gCc>gAc	p.A191D	RP11-464F9.22_ENST00000609434.1_lincRNA	NM_021245.3	NP_067068.1			myozenin 1									p.A191D(1)		central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					AACCCCCATGGCTCGCTCCCA	0.498																																					p.A191D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C572A	10						.						97.0	94.0	95.0					10																	75393754		2203	4300	6503	75063760	SO:0001583	missense	58529	exon5			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.572C>A	10.37:g.75393754G>T	ENSP00000352272:p.Ala191Asp		75063760	NM_021245		Missense_Mutation	SNP	ENST00000359322.4	37	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	G	35	5.515292	0.96402	.	.	ENSG00000177791	ENST00000359322	T	0.70399	-0.48	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86451	0.5936	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85168	0.0996	10	0.49607	T	0.09	-15.1364	20.8794	0.99867	0.0:0.0:1.0:0.0	.	191	Q9NP98	MYOZ1_HUMAN	D	191	ENSP00000352272:A191D	ENSP00000352272:A191D	A	-	2	0	MYOZ1	75063760	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.325000	0.72901	2.941000	0.99782	0.655000	0.94253	GCC		0.498	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1		
POLR3A	11128	broad.mit.edu	37	10	79741243	79741243	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:79741243G>A	ENST00000372371.3	-	29	3971	c.3834C>T	c.(3832-3834)caC>caT	p.H1278H		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1278					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|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)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.H1278H(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TGCTCATGCCGTGGTTCACCA	0.572																																					p.H1278H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3834T	10						.						334.0	297.0	309.0					10																	79741243		2203	4300	6503	79411249	SO:0001819	synonymous_variant	11128	exon29			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3834C>T	10.37:g.79741243G>A			79411249	NM_007055	Q8IW34|Q8TCW5	Silent	SNP	ENST00000372371.3	37	CCDS7354.1																																																																																				0.572	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055	
LRIT1	26103	broad.mit.edu	37	10	85992437	85992437	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:85992437G>A	ENST00000372105.3	-	4	1139	c.1118C>T	c.(1117-1119)gCt>gTt	p.A373V		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	373						integral component of endoplasmic reticulum membrane (GO:0030176)		p.A373V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GTTGTTGTAAGCAGCAGCTTC	0.592																																					p.A373V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1118T	10						.						70.0	51.0	58.0					10																	85992437		2203	4300	6503	85982417	SO:0001583	missense	26103	exon4			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1118C>T	10.37:g.85992437G>A	ENSP00000361177:p.Ala373Val		85982417	NM_015613	Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	g	9.488	1.100016	0.20552	.	.	ENSG00000148602	ENST00000372105	T	0.36699	1.24	5.8	3.97	0.46021	.	0.156037	0.56097	N	0.000022	T	0.22044	0.0531	L	0.34521	1.04	0.39230	D	0.963651	B	0.31241	0.315	B	0.25759	0.063	T	0.08513	-1.0718	10	0.22109	T	0.4	.	6.9792	0.24694	0.1466:0.0:0.7139:0.1395	.	373	Q9P2V4	LRIT1_HUMAN	V	373	ENSP00000361177:A373V	ENSP00000361177:A373V	A	-	2	0	LRIT1	85982417	0.977000	0.34250	0.037000	0.18230	0.034000	0.12701	3.164000	0.50770	0.822000	0.34565	-0.766000	0.03442	GCT		0.592	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613	
RGR	5995	broad.mit.edu	37	10	86008696	86008696	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:86008696G>A	ENST00000372092.3	+	3	222	c.217G>A	c.(217-219)Gga>Aga	p.G73R	RGR_ENST00000359452.4_Silent_p.S89S|RGR_ENST00000358110.5_Silent_p.S85S			P47804	RGR_HUMAN	retinal G protein coupled receptor	0					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.S89S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CCTACGGCTCGGACGGCTGCC	0.622																																					p.S85S	NSCLC(15;204 545 5889 6385 32445)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G255A	10						.						53.0	50.0	51.0					10																	86008696		2203	4300	6503	85998676	SO:0001583	missense	5995	exon3			BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000372092.3:c.217G>A	10.37:g.86008696G>A	ENSP00000361164:p.Gly73Arg		85998676	NM_001012720	A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000372092.3	37		.	.	.	.	.	.	.	.	.	.	G	9.145	1.014906	0.19355	.	.	ENSG00000148604	ENST00000372092	.	.	.	4.22	-8.44	0.00950	.	.	.	.	.	T	0.34919	0.0914	.	.	.	0.35266	D	0.780027	B	0.09022	0.002	B	0.08055	0.003	T	0.16012	-1.0417	7	0.87932	D	0	.	4.5944	0.12322	0.5315:0.2314:0.0892:0.1479	.	73	Q96HT6	.	R	73	.	ENSP00000361164:G73R	G	+	1	0	RGR	85998676	0.000000	0.05858	0.000000	0.03702	0.853000	0.48598	-7.275000	0.00040	-3.489000	0.00153	-0.748000	0.03510	GGA		0.622	RGR-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049117.1	NM_002921	
FAM35A	54537	broad.mit.edu	37	10	88911830	88911830	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:88911830C>A	ENST00000298784.1	+	3	833	c.719C>A	c.(718-720)aCa>aAa	p.T240K	FAM35A_ENST00000298786.4_Missense_Mutation_p.T240K|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	240								p.T240K(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TCAACTGATACAGAATTTCTC	0.388																																					p.T240K	Ovarian(175;703 2004 25460 32514 43441)											.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.C719A	10						.						30.0	30.0	30.0					10																	88911830		2203	4295	6498	88901810	SO:0001583	missense	54537	exon3			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.719C>A	10.37:g.88911830C>A	ENSP00000298784:p.Thr240Lys		88901810	NM_019054	O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	c	16.25	3.071539	0.55646	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.27104	1.7;1.69;1.69	4.09	3.09	0.35607	.	0.289768	0.25801	N	0.028214	T	0.45716	0.1356	.	.	.	0.34044	D	0.655393	D	0.63046	0.992	D	0.65573	0.936	T	0.61700	-0.7009	9	0.59425	D	0.04	-9.6069	12.3445	0.55114	0.0:0.9021:0.0:0.0979	.	240	Q86V20	FA35A_HUMAN	K	240	ENSP00000298786:T240K;ENSP00000298784:T240K;ENSP00000351064:T240K	ENSP00000298784:T240K	T	+	2	0	FAM35A	88901810	1.000000	0.71417	0.665000	0.29768	0.884000	0.51177	2.667000	0.46808	2.134000	0.65973	0.537000	0.68136	ACA		0.388	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054	
KIF20B	9585	broad.mit.edu	37	10	91514321	91514321	+	Frame_Shift_Del	DEL	A	A	-	rs375746203		TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:91514321delA	ENST00000371728.3	+	26	4459	c.4394delA	c.(4393-4395)gaafs	p.E1465fs	KIF20B_ENST00000260753.4_Frame_Shift_Del_p.E1425fs|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Frame_Shift_Del_p.E1465fs|KIF20B_ENST00000416354.1_Frame_Shift_Del_p.E1495fs	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1465					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.M1427fs*1(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						TGGTTAGAAGAAAAAATGATG	0.328																																					p.E1425fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4274delA	10						.						66.0	67.0	67.0					10																	91514321		2203	4299	6502	91504301	SO:0001589	frameshift_variant	9585	exon26			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.4394delA	10.37:g.91514321delA	ENSP00000360793:p.Glu1465fs		91504301	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Frame_Shift_Del	DEL	ENST00000371728.3	37																																																																																					0.328	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
CPEB3	22849	broad.mit.edu	37	10	94000105	94000105	+	Start_Codon_SNP	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:94000105C>T	ENST00000265997.4	-	2	175	c.3G>A	c.(1-3)atG>atA	p.M1I	CPEB3_ENST00000412050.4_Start_Codon_SNP_p.M1I	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	1					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)	p.M1I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AATCATCCTGCATGGTTTGCG	0.542																																					p.M1I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3A	10						.						9.0	9.0	9.0					10																	94000105		1852	3565	5417	93990085	SO:0001582	initiator_codon_variant	22849	exon2			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.3G>A	10.37:g.94000105C>T	ENSP00000265997:p.Met1Ile		93990085	NM_014912	Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456483	0.43634	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.54071	0.61;0.59	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	.	.	.	0.80722	D	1	P;P;P	0.39044	0.525;0.525;0.656	P;P;P	0.51777	0.48;0.48;0.679	T	0.51084	-0.8750	9	0.15952	T	0.53	-10.9384	17.7481	0.88426	0.0:1.0:0.0:0.0	.	1;1;1	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	I	1	ENSP00000398310:M1I;ENSP00000265997:M1I	ENSP00000265997:M1I	M	-	3	0	CPEB3	93990085	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.117000	0.77129	2.414000	0.81942	0.655000	0.94253	ATG		0.542	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912	Missense_Mutation
EXOC6	54536	broad.mit.edu	37	10	94675520	94675520	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:94675520G>A	ENST00000260762.6	+	7	683	c.669G>A	c.(667-669)caG>caA	p.Q223Q	EXOC6_ENST00000371552.4_Silent_p.Q218Q|EXOC6_ENST00000371547.4_Silent_p.Q239Q|EXOC6_ENST00000443748.2_Silent_p.Q223Q|EXOC6_ENST00000497262.1_3'UTR	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	223					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)		p.Q223Q(1)|p.Q218Q(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AATAGGCACAGCATCAGAAAA	0.279																																					p.Q218Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G654A	10						.						47.0	52.0	50.0					10																	94675520		2197	4293	6490	94665500	SO:0001819	synonymous_variant	54536	exon7			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.669G>A	10.37:g.94675520G>A			94665500	NM_001013848	E9PHI3|Q5VXH8|Q9NZ24	Silent	SNP	ENST00000260762.6	37	CCDS7424.2																																																																																				0.279	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053	
SORBS1	10580	broad.mit.edu	37	10	97096451	97096451	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:97096451C>T	ENST00000361941.3	-	28	3492	c.3466G>A	c.(3466-3468)Gtg>Atg	p.V1156M	SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.V1110M|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.V1156M|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.V1015M|SORBS1_ENST00000371246.2_Missense_Mutation_p.V1015M|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371239.1_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.V1156M(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CACCTGACCACGTCTGAAGGC	0.567																																					p.V1156M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3466A	10						.						97.0	99.0	98.0					10																	97096451		2203	4300	6503	97086441	SO:0001583	missense	10580	exon28			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3466G>A	10.37:g.97096451C>T	ENSP00000355136:p.Val1156Met		97086441	NM_001034954		Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224189	0.39300	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000371246;ENST00000361941;ENST00000277982	T;T;T;T;T	0.08282	3.11;3.11;3.41;3.11;3.41	5.58	4.65	0.58169	.	0.000000	0.38217	N	0.001770	T	0.04137	0.0115	N	0.14661	0.345	0.80722	D	1	P;B;P	0.36974	0.576;0.44;0.576	B;B;B	0.30251	0.113;0.053;0.113	T	0.46498	-0.9187	10	0.37606	T	0.19	-9.1639	7.4193	0.27063	0.0:0.6365:0.266:0.0975	.	1110;1156;1015	Q9BX66-11;Q9BX66;Q9BX66-2	.;SRBS1_HUMAN;.	M	1156;1110;1015;1156;1015	ENSP00000360293:V1156M;ENSP00000360271:V1110M;ENSP00000360292:V1015M;ENSP00000355136:V1156M;ENSP00000277982:V1015M	ENSP00000277982:V1015M	V	-	1	0	SORBS1	97086441	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.528000	0.35985	2.641000	0.89580	0.561000	0.74099	GTG		0.567	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1		
ADAM12	8038	broad.mit.edu	37	10	127724815	127724815	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:127724815delT	ENST00000368679.4	-	21	2747	c.2438delA	c.(2437-2439)cagfs	p.Q813fs		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	813					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.Q813fs*>97(2)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTGAGTTGACTGGGGCTGAGG	0.587																																					p.Q813fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.2438delA	10						.						104.0	102.0	102.0					10																	127724815		2203	4300	6503	127714805	SO:0001589	frameshift_variant	8038	exon21			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2438delA	10.37:g.127724815delT	ENSP00000357668:p.Gln813fs		127714805	NM_003474	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Frame_Shift_Del	DEL	ENST00000368679.4	37	CCDS7653.1																																																																																				0.587	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1		
C10orf90	118611	broad.mit.edu	37	10	128193236	128193236	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:128193236delG	ENST00000284694.7	-	3	653	c.533delC	c.(532-534)ccgfs	p.P178fs	C10orf90_ENST00000454341.1_Frame_Shift_Del_p.P178fs|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Frame_Shift_Del_p.P131fs|C10orf90_ENST00000544758.1_Frame_Shift_Del_p.P275fs|C10orf90_ENST00000356858.3_Frame_Shift_Del_p.P131fs	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	178	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.P178fs*30(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GGCCAGAGCCGGGGGCGCCTG	0.662											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P178fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.533delC	10						.						46.0	54.0	51.0					10																	128193236		2202	4300	6502	128183226	SO:0001589	frameshift_variant	118611	exon3			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.533delC	10.37:g.128193236delG	ENSP00000284694:p.Pro178fs	1563	128183226	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Frame_Shift_Del	DEL	ENST00000284694.7	37	CCDS31310.1																																																																																				0.662	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	
EBF3	253738	broad.mit.edu	37	10	131666125	131666125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:131666125delC	ENST00000355311.5	-	9	905	c.833delG	c.(832-834)ggtfs	p.G278fs	EBF3_ENST00000368648.3_Frame_Shift_Del_p.G269fs			Q9H4W6	COE3_HUMAN	early B-cell factor 3	278	IPT/TIG.				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)	p.G269fs*6(2)|p.G278fs*6(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GACGGTGGCACCCCCCGTGGT	0.577																																					p.G269fs												.	.	3	Deletion - Frameshift(3)	large_intestine(3)	c.806delG	10						.						119.0	95.0	103.0					10																	131666125		2203	4300	6503	131556115	SO:0001589	frameshift_variant	253738	exon9				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.833delG	10.37:g.131666125delC	ENSP00000347463:p.Gly278fs		131556115	NM_001005463	A0AUY1|Q5T6H9|Q9H4W5	Frame_Shift_Del	DEL	ENST00000355311.5	37																																																																																					0.577	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463	
LRRC27	80313	broad.mit.edu	37	10	134151131	134151131	+	Silent	SNP	G	G	A	rs116451295	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr10:134151131G>A	ENST00000368614.3	+	3	378	c.273G>A	c.(271-273)ccG>ccA	p.P91P	LRRC27_ENST00000392638.2_Silent_p.P91P|LRRC27_ENST00000368615.3_Silent_p.P91P|LRRC27_ENST00000432555.2_5'UTR|LRRC27_ENST00000344079.5_Silent_p.P91P|LRRC27_ENST00000368610.3_Silent_p.P29P|LRRC27_ENST00000368613.4_Silent_p.P91P|LRRC27_ENST00000356571.4_Silent_p.P91P|LRRC27_ENST00000368612.1_Silent_p.P29P	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	91								p.P91P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGTTGCTTCCGAACCTGACTT	0.408																																					p.P91P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|pancreas(1)	c.G273A	10						.						105.0	99.0	101.0					10																	134151131		2203	4300	6503	134001121	SO:0001819	synonymous_variant	80313	exon3			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.273G>A	10.37:g.134151131G>A			134001121	NM_001143758	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Silent	SNP	ENST00000368614.3	37	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.164734	0.01673	.	.	ENSG00000148814	ENST00000450442	.	.	.	4.73	-9.47	0.00594	.	.	.	.	.	T	0.44871	0.1314	.	.	.	0.52501	D	0.999954	.	.	.	.	.	.	T	0.61153	-0.7120	4	.	.	.	-20.1907	6.1334	0.20217	0.2244:0.4943:0.2025:0.0788	.	.	.	.	Q	43	.	.	R	+	2	0	LRRC27	134001121	0.957000	0.32711	0.005000	0.12908	0.040000	0.13550	-0.274000	0.08537	-4.666000	0.00037	-1.623000	0.00790	CGA		0.408	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462	
EFNA5	1946	broad.mit.edu	37	5	106763002	106763002	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:106763002G>A	ENST00000333274.6	-	2	615	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	EFNA5_ENST00000509503.1_Silent_p.L112L	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	112	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)	p.L112L(1)		large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GAGAACTTCAGCGGTCCATTT	0.458																																					p.L112L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C334T	5						.						81.0	81.0	81.0					5																	106763002		2202	4300	6502	106790901	SO:0001819	synonymous_variant	1946	exon2			U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.334C>T	5.37:g.106763002G>A			106790901	NM_001962		Silent	SNP	ENST00000333274.6	37	CCDS4097.1																																																																																				0.458	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962	
PJA2	9867	broad.mit.edu	37	5	108714666	108714666	+	Silent	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:108714666A>G	ENST00000361189.2	-	4	761	c.522T>C	c.(520-522)caT>caC	p.H174H	PJA2_ENST00000511624.1_5'Flank|PJA2_ENST00000361557.3_Silent_p.H174H	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	174					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H174H(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TATCTTCTCCATGTTTGCCAT	0.408																																					p.H174H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T522C	5						.						151.0	139.0	143.0					5																	108714666		2202	4300	6502	108742565	SO:0001819	synonymous_variant	9867	exon4			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.522T>C	5.37:g.108714666A>G			108742565	NM_014819	A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Silent	SNP	ENST00000361189.2	37	CCDS4099.1																																																																																				0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819	
WDR36	134430	broad.mit.edu	37	5	110440033	110440033	+	Silent	SNP	C	C	T	rs139303905	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:110440033C>T	ENST00000513710.2	+	8	1060	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	WDR36_ENST00000505303.1_Silent_p.G296G|WDR36_ENST00000506538.2_Silent_p.G352G			Q8NI36	WDR36_HUMAN	WD repeat domain 36	352					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.G352G(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TCACAAATGGCGCTGACAATG	0.378													C|||	6	0.00119808	0.0045	0.0	5008	,	,		18902	0.0		0.0	False		,,,				2504	0.0				p.G352G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1056T	5						.	C		5,4399	9.9+/-24.2	0,5,2197	155.0	154.0	154.0		1056	-4.2	0.9	5	dbSNP_134	154	0,8600		0,0,4300	no	coding-synonymous	WDR36	NM_139281.2		0,5,6497	TT,TC,CC		0.0,0.1135,0.0384		352/952	110440033	5,12999	2202	4300	6502	110467932	SO:0001819	synonymous_variant	134430	exon8			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1056C>T	5.37:g.110440033C>T			110467932	NM_139281	A2RUS4|Q68E02|Q8N1Q2	Silent	SNP	ENST00000513710.2	37	CCDS4102.1																																																																																				0.378	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281	
APC	324	broad.mit.edu	37	5	112128191	112128191	+	Nonsense_Mutation	SNP	C	C	T	rs397515734		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:112128191C>T	ENST00000457016.1	+	7	1074	c.694C>T	c.(694-696)Cga>Tga	p.R232*	APC_ENST00000257430.4_Nonsense_Mutation_p.R232*|APC_ENST00000508376.2_Nonsense_Mutation_p.R232*			P25054	APC_HUMAN	adenomatous polyposis coli	232	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R232*(13)		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)		ACTTCGTATACGACAGCTTTT	0.308		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.R232X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,NS,Substitution - Nonsense,0	.	13	Substitution - Nonsense(13)	large_intestine(13)	c.C694T	5	GRCh37	CM920029	APC	M		.						82.0	79.0	80.0					5																	112128191		2202	4300	6502	112156090	SO:0001587	stop_gained	324	exon8	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.694C>T	5.37:g.112128191C>T	ENSP00000413133:p.Arg232*		112156090	NM_001127510	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	8.033640	0.98621	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.19	4.32	0.51571	.	0.206644	0.42682	D	0.000664	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.475	13.9715	0.64242	0.2757:0.7243:0.0:0.0	.	.	.	.	X	232	.	ENSP00000257430:R232X	R	+	1	2	APC	112156090	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.535000	0.36061	1.304000	0.44892	-0.158000	0.13435	CGA		0.308	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112175639	112175639	+	Nonsense_Mutation	SNP	C	C	T	rs121913332		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:112175639C>T	ENST00000457016.1	+	16	4728	c.4348C>T	c.(4348-4350)Cga>Tga	p.R1450*	APC_ENST00000257430.4_Nonsense_Mutation_p.R1450*|APC_ENST00000508376.2_Nonsense_Mutation_p.R1450*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1450	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.R1450*(153)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.R1450fs*22(1)|p.S1436fs*22(1)|p.R1450fs*5(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)		TCAAACCAAGCGAGAAGTACC	0.478	R1450*(LS123_LARGE_INTESTINE)|R1450*(MKN74_STOMACH)|R1450*(SW1417_LARGE_INTESTINE)|R1450*(SW837_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.R1432X	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,rectum,Substitution - Nonsense,0	.	159	Substitution - Nonsense(153)|Deletion - Frameshift(4)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(136)|stomach(13)|soft_tissue(4)|small_intestine(3)|endometrium(1)|skin(1)|pancreas(1)	c.C4294T	5	GRCh37	CM930030	APC	M	rs121913332	.						102.0	90.0	94.0					5																	112175639		2202	4300	6502	112203538	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.4348C>T	5.37:g.112175639C>T	ENSP00000413133:p.Arg1450*		112203538	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.651223	0.98901	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	4.2	0.49525	.	0.600559	0.18052	N	0.153248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.0649	14.037	0.64651	0.426:0.574:0.0:0.0	.	.	.	.	X	1450	.	.	R	+	1	2	APC	112203538	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.171000	0.50824	1.564000	0.49628	0.655000	0.94253	CGA		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
CTNND2	1501	broad.mit.edu	37	5	11346700	11346700	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:11346700C>T	ENST00000304623.8	-	9	1601	c.1412G>A	c.(1411-1413)cGc>cAc	p.R471H	CTNND2_ENST00000359640.2_Missense_Mutation_p.R471H|CTNND2_ENST00000511377.1_Missense_Mutation_p.R380H|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.R38H|CTNND2_ENST00000503622.1_Missense_Mutation_p.R134H	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	471					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R471H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCTGCCTGTGCGCTGCAAGGG	0.607																																					p.R471H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1412A	5						.						34.0	38.0	37.0					5																	11346700		2203	4300	6503	11399700	SO:0001583	missense	1501	exon9			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1412G>A	5.37:g.11346700C>T	ENSP00000307134:p.Arg471His		11399700	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568157	0.86439	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	D;D;D;D;D	0.82984	-1.58;-1.67;-1.58;-1.5;-1.51	5.79	5.79	0.91817	.	0.220193	0.30686	N	0.009093	D	0.83764	0.5325	L	0.57536	1.79	0.80722	D	1	D;P;B	0.52996	0.957;0.606;0.086	B;B;B	0.44044	0.439;0.143;0.013	D	0.85665	0.1291	10	0.72032	D	0.01	-14.6061	20.0943	0.97832	0.0:1.0:0.0:0.0	.	134;38;471	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	H	471;471;380;38;134	ENSP00000307134:R471H;ENSP00000352661:R471H;ENSP00000426510:R380H;ENSP00000391155:R38H;ENSP00000426887:R134H	ENSP00000307134:R471H	R	-	2	0	CTNND2	11399700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.758000	0.94735	0.579000	0.79373	CGC		0.607	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
DCP2	167227	broad.mit.edu	37	5	112337151	112337151	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:112337151C>T	ENST00000389063.2	+	6	881	c.683C>T	c.(682-684)gCc>gTc	p.A228V	DCP2_ENST00000543319.1_Missense_Mutation_p.A17V|DCP2_ENST00000515408.1_Missense_Mutation_p.A228V	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	228					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.A228V(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)		TTTTTTATGGCCATTCCCTTT	0.353																																					p.A228V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C683T	5						.						106.0	114.0	111.0					5																	112337151		2202	4300	6502	112365050	SO:0001583	missense	167227	exon6			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.683C>T	5.37:g.112337151C>T	ENSP00000373715:p.Ala228Val		112365050	NM_152624	C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	CCDS34210.1	.	.	.	.	.	.	.	.	.	.	C	7.318	0.616459	0.14129	.	.	ENSG00000172795	ENST00000515408;ENST00000389063;ENST00000543319	T;T	0.33654	1.47;1.4	5.56	5.56	0.83823	.	0.095001	0.64402	D	0.000001	T	0.20210	0.0486	N	0.17082	0.46	0.54753	D	0.999986	B;B	0.20550	0.046;0.027	B;B	0.19946	0.027;0.021	T	0.06144	-1.0843	10	0.02654	T	1	-13.6601	12.8195	0.57685	0.0:0.9254:0.0:0.0746	.	228;228	Q8IU60-2;Q8IU60	.;DCP2_HUMAN	V	228;228;17	ENSP00000425770:A228V;ENSP00000373715:A228V	ENSP00000373715:A228V	A	+	2	0	DCP2	112365050	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.654000	0.61469	2.628000	0.89032	0.453000	0.30009	GCC		0.353	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624	
AP3S1	1176	broad.mit.edu	37	5	115205726	115205726	+	Silent	SNP	A	A	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:115205726A>T	ENST00000316788.7	+	3	731	c.174A>T	c.(172-174)ggA>ggT	p.G58G		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	58					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.G58G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TAATTGGAGGATCTGACAACA	0.294																																					p.G58G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A174T	5						.						109.0	107.0	107.0					5																	115205726		2202	4294	6496	115233625	SO:0001819	synonymous_variant	1176	exon3			D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.174A>T	5.37:g.115205726A>T			115233625	NM_001284	O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Silent	SNP	ENST00000316788.7	37	CCDS4123.1																																																																																				0.294	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2		
ALDH7A1	501	broad.mit.edu	37	5	125911134	125911134	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:125911134G>A	ENST00000409134.3	-	7	892	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	ALDH7A1_ENST00000553117.1_Missense_Mutation_p.L225F|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.L252F|ALDH7A1_ENST00000413020.1_5'UTR	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	225					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)	p.L197F(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		ACACTAATGAGGGAAGTGGTT	0.343																																					p.L225F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C673T	5						.						64.0	62.0	63.0					5																	125911134		2203	4300	6503	125939033	SO:0001583	missense	501	exon7			S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.673C>T	5.37:g.125911134G>A	ENSP00000387123:p.Leu225Phe		125939033	NM_001182	B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903392	0.92035	.	.	ENSG00000164904	ENST00000409134;ENST00000553117;ENST00000447989;ENST00000437170;ENST00000510111	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.09	5.09	0.68999	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.92004	0.5613	10	0.87932	D	0	.	16.8052	0.85625	0.0:0.0:1.0:0.0	.	252;252;225	E7EPT3;B4DMA0;P49419	.;.;AL7A1_HUMAN	F	225;225;252;33;196	ENSP00000387123:L225F;ENSP00000448593:L225F;ENSP00000414132:L252F;ENSP00000447388:L196F	ENSP00000387123:L225F	L	-	1	0	ALDH7A1	125939033	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.492000	0.90471	2.809000	0.96659	0.557000	0.71058	CTC		0.343	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182	
FBN2	2201	broad.mit.edu	37	5	127671687	127671687	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:127671687G>A	ENST00000508053.1	-	34	4691	c.3717C>T	c.(3715-3717)ggC>ggT	p.G1239G	FBN2_ENST00000508989.1_Silent_p.G1206G|FBN2_ENST00000507835.1_Silent_p.G89G|FBN2_ENST00000262464.4_Silent_p.G1239G			P35556	FBN2_HUMAN	fibrillin 2	1239	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G1239G(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TACCTGTACAGCCCTGGCGGT	0.458																																					p.G1239G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3717T	5						.						72.0	64.0	66.0					5																	127671687		2203	4300	6503	127699586	SO:0001819	synonymous_variant	2201	exon28			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3717C>T	5.37:g.127671687G>A			127699586	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																				0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
RAPGEF6	51735	broad.mit.edu	37	5	130782243	130782243	+	Silent	SNP	G	G	A	rs151303165		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:130782243G>A	ENST00000509018.1	-	22	3559	c.3354C>T	c.(3352-3354)ctC>ctT	p.L1118L	RAPGEF6_ENST00000296859.6_Silent_p.L1126L|RAPGEF6_ENST00000307984.5_Silent_p.L1131L|RAPGEF6_ENST00000507093.1_Silent_p.L1126L|RAPGEF6_ENST00000512052.1_Silent_p.L841L|RAPGEF6_ENST00000308008.6_Silent_p.L1118L|CTC-432M15.3_ENST00000514667.1_Silent_p.L1168L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1118					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.L1168L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCTCTACATCGAGACTGGAAA	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19303	0.0		0.0	False		,,,				2504	0.0				p.L1131L	Melanoma(168;435 1955 13113 13877 23213)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3393T	5						.	G	,,,,	3,4403	6.2+/-15.9	0,3,2200	225.0	200.0	208.0		3378,3393,3378,3354,3354	0.2	1.0	5	dbSNP_134	208	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RAPGEF6	NM_001164386.1,NM_001164387.1,NM_001164388.1,NM_001164389.1,NM_016340.5	,,,,	0,10,6493	AA,AG,GG		0.0814,0.0681,0.0769	,,,,	1126/1610,1131/1510,1126/1505,1118/1392,1118/1602	130782243	10,12996	2203	4300	6503	130810142	SO:0001819	synonymous_variant	51735	exon24			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3354C>T	5.37:g.130782243G>A			130810142	NM_001164387	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	ENST00000509018.1	37	CCDS34225.1																																																																																				0.453	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	
TRPC7	57113	broad.mit.edu	37	5	135692632	135692632	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:135692632G>A	ENST00000513104.1	-	2	726	c.444C>T	c.(442-444)gaC>gaT	p.D148D	TRPC7_ENST00000355180.3_Silent_p.D148D|TRPC7_ENST00000426057.2_Silent_p.D148D	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	148					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.D148D(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAAGTCGTCGTCGCGCAGCT	0.652																																					p.D148D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C444T	5						.						97.0	105.0	102.0					5																	135692632		2202	4299	6501	135720531	SO:0001819	synonymous_variant	57113	exon2			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.444C>T	5.37:g.135692632G>A			135720531	NM_020389	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	De_novo_Start_OutOfFrame	SNP	ENST00000513104.1	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	2.029	-0.422814	0.04734	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.27	-3.68	0.04463	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.9109	8.8472	0.35177	0.7143:0.0:0.1594:0.1263	.	.	.	.	X	148	.	.	R	-	1	2	TRPC7	135720531	0.168000	0.22989	0.320000	0.25306	0.348000	0.29142	-0.290000	0.08354	-0.651000	0.05415	-1.816000	0.00601	CGA		0.652	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
DNAH5	1767	broad.mit.edu	37	5	13717543	13717543	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:13717543G>T	ENST00000265104.4	-	73	12690	c.12586C>A	c.(12586-12588)Cag>Aag	p.Q4196K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4196	AAA 6. {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.Q4196K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCCTCTCCTGGACAGTGGAG	0.552									Kartagener syndrome																												p.Q4196K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12586A	5						.						67.0	60.0	62.0					5																	13717543		2203	4300	6503	13770543	SO:0001583	missense	1767	exon73	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.12586C>A	5.37:g.13717543G>T	ENSP00000265104:p.Gln4196Lys		13770543	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571457	0.86542	.	.	ENSG00000039139	ENST00000265104	T	0.09630	2.96	5.45	5.45	0.79879	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	H	0.98769	4.325	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.74893	-0.3509	10	0.72032	D	0.01	.	19.2888	0.94090	0.0:0.0:1.0:0.0	.	4196	Q8TE73	DYH5_HUMAN	K	4196	ENSP00000265104:Q4196K	ENSP00000265104:Q4196K	Q	-	1	0	DNAH5	13770543	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.843000	0.99491	2.557000	0.86248	0.655000	0.94253	CAG		0.552	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
CDC25C	995	broad.mit.edu	37	5	137622891	137622891	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:137622891G>A	ENST00000323760.6	-	11	1271	c.993C>T	c.(991-993)cgC>cgT	p.R331R	CDC25C_ENST00000415130.2_Silent_p.R258R|CDC25C_ENST00000348983.3_Silent_p.R258R|CDC25C_ENST00000357274.3_Silent_p.R288R|CDC25C_ENST00000356505.3_Silent_p.R301R|CDC25C_ENST00000514555.1_Silent_p.R301R|CDC25C_ENST00000513970.1_Silent_p.R331R	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	331	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)	p.R331R(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATATGGATAGCGACAATCAA	0.463																																					p.R331R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C993T	5						.						123.0	116.0	118.0					5																	137622891		2203	4300	6503	137650790	SO:0001819	synonymous_variant	995	exon11			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.993C>T	5.37:g.137622891G>A			137650790	NM_001790	D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Silent	SNP	ENST00000323760.6	37	CCDS4202.1																																																																																				0.463	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1		
EGR1	1958	broad.mit.edu	37	5	137803261	137803261	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:137803261C>T	ENST00000239938.4	+	2	1395	c.1123C>T	c.(1123-1125)Cgc>Tgc	p.R375C		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	375					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R375C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATCTGCATGCGCAACTTCAG	0.622																																					p.R375C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1123T	5						.						83.0	82.0	83.0					5																	137803261		2203	4300	6503	137831160	SO:0001583	missense	1958	exon2			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1123C>T	5.37:g.137803261C>T	ENSP00000239938:p.Arg375Cys		137831160	NM_001964		Missense_Mutation	SNP	ENST00000239938.4	37	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806753	0.50421	.	.	ENSG00000120738	ENST00000239938	T	0.68765	-0.35	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78033	-0.2362	10	0.87932	D	0	-16.5076	11.0361	0.47802	0.1856:0.8144:0.0:0.0	.	375	P18146	EGR1_HUMAN	C	375	ENSP00000239938:R375C	ENSP00000239938:R375C	R	+	1	0	EGR1	137831160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.333000	0.43912	2.177000	0.69029	0.563000	0.77884	CGC		0.622	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964	
PCDHA2	56146	broad.mit.edu	37	5	140176479	140176479	+	Nonsense_Mutation	SNP	C	C	T	rs143944331		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:140176479C>T	ENST00000526136.1	+	1	1930	c.1930C>T	c.(1930-1932)Cga>Tga	p.R644*	PCDHA2_ENST00000520672.2_Nonsense_Mutation_p.R644*|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Nonsense_Mutation_p.R644*|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R644*(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCCCCTCGACACCGCCT	0.632																																					p.R644X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1930T	5						.						82.0	80.0	81.0					5																	140176479		2203	4300	6503	140156663	SO:0001587	stop_gained	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.1930C>T	5.37:g.140176479C>T	ENSP00000431748:p.Arg644*		140156663	NM_018905	O75287|Q9BTV3	Nonsense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	13.95	2.389561	0.42410	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	.	.	.	3.91	1.94	0.25998	.	0.790188	0.10028	U	0.725113	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8347	0.23929	0.292:0.6209:0.0:0.0871	.	.	.	.	X	644	.	ENSP00000367372:R644X	R	+	1	2	PCDHA2	140156663	0.000000	0.05858	0.083000	0.20561	0.001000	0.01503	-0.167000	0.09940	0.780000	0.33566	-0.274000	0.10170	CGA		0.632	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
PCDHA3	56145	broad.mit.edu	37	5	140181890	140181890	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:140181890G>A	ENST00000522353.2	+	1	1108	c.1108G>A	c.(1108-1110)Gct>Act	p.A370T	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A370T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	370	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A370T(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGTCATCGCTCTGATCAG	0.483																																					p.A370T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1108A	5						.						123.0	119.0	120.0					5																	140181890		2203	4300	6503	140162074	SO:0001583	missense	56145	exon1			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1108G>A	5.37:g.140181890G>A	ENSP00000429808:p.Ala370Thr		140162074	NM_031497	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	15.19	2.760474	0.49468	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.52754	0.65;0.65	4.79	4.79	0.61399	Cadherin (3);Cadherin-like (1);	0.000000	0.41500	U	0.000870	T	0.65852	0.2731	M	0.70787	2.145	0.34566	D	0.712864	D;D	0.69078	0.997;0.979	P;P	0.60609	0.799;0.877	T	0.76865	-0.2801	10	0.59425	D	0.04	.	18.1862	0.89793	0.0:0.0:1.0:0.0	.	370;370	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	T	370	ENSP00000429808:A370T;ENSP00000434086:A370T	ENSP00000429808:A370T	A	+	1	0	PCDHA3	140162074	1.000000	0.71417	0.945000	0.38365	0.119000	0.20118	7.981000	0.88123	2.378000	0.81104	0.467000	0.42956	GCT		0.483	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA5	56143	broad.mit.edu	37	5	140201827	140201827	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:140201827C>T	ENST00000529859.1	+	1	467	c.467C>T	c.(466-468)gCg>gTg	p.A156V	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A156V|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A156V|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	156	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A156V(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAGAGGGCGCGTCGGATTTG	0.398																																					p.A156V												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C467T	5						.						50.0	55.0	54.0					5																	140201827		2203	4300	6503	140182011	SO:0001583	missense	56143	exon1			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.467C>T	5.37:g.140201827C>T	ENSP00000436557:p.Ala156Val		140182011	NM_018908	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472423	0.84533	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.59364	0.27;0.27;0.27	4.02	4.02	0.46733	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.82815	0.5119	H	0.95079	3.62	0.42748	D	0.993768	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.89364	0.3670	9	0.87932	D	0	.	16.5119	0.84288	0.0:1.0:0.0:0.0	.	156;156;156	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	V	156	ENSP00000433416:A156V;ENSP00000436557:A156V;ENSP00000367366:A156V	ENSP00000367366:A156V	A	+	2	0	PCDHA5	140182011	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	7.815000	0.86186	1.946000	0.56461	0.591000	0.81541	GCG		0.398	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908	
PCDHB6	56130	broad.mit.edu	37	5	140531362	140531362	+	Silent	SNP	C	C	T	rs183853561	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:140531362C>T	ENST00000231136.1	+	1	1524	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	PCDHB6_ENST00000543635.1_Silent_p.N372N	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	508	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N508N(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCGGACAACGGCCACCTGT	0.667													C|||	28	0.00559105	0.0	0.0403	5008	,	,		16343	0.0		0.0	False		,,,				2504	0.0				p.N508N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1524T	5						.	C		0,4404		0,0,2202	80.0	83.0	82.0		1524	-0.5	0.3	5		82	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	PCDHB6	NM_018939.2		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		508/795	140531362	2,12998	2202	4298	6500	140511546	SO:0001819	synonymous_variant	56130	exon1			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1524C>T	5.37:g.140531362C>T			140511546	NM_018939	B2R8R9	Silent	SNP	ENST00000231136.1	37	CCDS4248.1																																																																																				0.667	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939	
PCDHGB3	56102	broad.mit.edu	37	5	140751522	140751522	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:140751522G>A	ENST00000576222.1	+	1	1692	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	521	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCCTTCGACCACGAGCA	0.682																																					p.D521N												.	.	0			c.G1561A	5						.						41.0	47.0	45.0					5																	140751522		2119	4234	6353	140731706	SO:0001583	missense	56102	exon1			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1561G>A	5.37:g.140751522G>A	ENSP00000461862:p.Asp521Asn		140731706	NM_018924	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.682	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
ARAP3	64411	broad.mit.edu	37	5	141033860	141033860	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:141033860C>A	ENST00000239440.4	-	33	4357	c.4292G>T	c.(4291-4293)tGg>tTg	p.W1431L	FCHSD1_ENST00000519800.1_5'Flank|ARAP3_ENST00000513878.1_Missense_Mutation_p.W1080L|FCHSD1_ENST00000435817.2_5'Flank|ARAP3_ENST00000508305.1_Missense_Mutation_p.W1262L|FCHSD1_ENST00000522783.1_5'Flank|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1431					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.W1431L(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTTCACTGTCCACTCCCGTGT	0.572																																					p.W1431L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4292T	5						.						117.0	115.0	115.0					5																	141033860		2203	4300	6503	141014044	SO:0001583	missense	64411	exon33			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4292G>T	5.37:g.141033860C>A	ENSP00000239440:p.Trp1431Leu		141014044	NM_022481	B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	1.608	-0.524839	0.04141	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.41400	1.0;1.0;1.0	4.6	2.75	0.32379	.	1.111220	0.06885	N	0.803285	T	0.24967	0.0606	N	0.12182	0.205	0.09310	N	1	B;B;B	0.18310	0.004;0.027;0.016	B;B;B	0.14023	0.004;0.01;0.007	T	0.23119	-1.0197	10	0.39692	T	0.17	.	5.1978	0.15246	0.1604:0.6598:0.0:0.1798	.	1080;1262;1431	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	L	1262;1431;1080	ENSP00000421826:W1262L;ENSP00000239440:W1431L;ENSP00000421468:W1080L	ENSP00000239440:W1431L	W	-	2	0	ARAP3	141014044	0.011000	0.17503	0.048000	0.18961	0.039000	0.13416	0.216000	0.17585	0.494000	0.27859	0.655000	0.94253	TGG		0.572	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	
ARAP3	64411	broad.mit.edu	37	5	141059990	141059990	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:141059990C>T	ENST00000239440.4	-	2	129	c.64G>A	c.(64-66)Gca>Aca	p.A22T	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	22	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.A22T(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AACGTGTCTGCATACTGCTCC	0.682																																					p.A22T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G64A	5						.						41.0	40.0	40.0					5																	141059990		2203	4299	6502	141040174	SO:0001583	missense	64411	exon2			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.64G>A	5.37:g.141059990C>T	ENSP00000239440:p.Ala22Thr		141040174	NM_022481	B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782285	0.49891	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	D;T	0.84589	-1.87;-0.02	4.39	4.39	0.52855	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.451841	0.20449	N	0.092126	T	0.80706	0.4674	L	0.41961	1.31	0.80722	D	1	P	0.51791	0.948	P	0.48627	0.584	T	0.75844	-0.3174	10	0.08837	T	0.75	.	10.3573	0.43972	0.0:0.8004:0.1996:0.0	.	22	Q8WWN8	ARAP3_HUMAN	T	22	ENSP00000239440:A22T;ENSP00000421148:A22T	ENSP00000239440:A22T	A	-	1	0	ARAP3	141040174	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.898000	0.48672	2.272000	0.75746	0.462000	0.41574	GCA		0.682	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	
SPRY4	81848	broad.mit.edu	37	5	141693948	141693948	+	Silent	SNP	G	G	A	rs145360326	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:141693948G>A	ENST00000434127.2	-	2	969	c.726C>T	c.(724-726)tcC>tcT	p.S242S	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Silent_p.S265S	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	242	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.S265S(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCACCACGGAGAGAGCAC	0.682									Testicular Cancer, Familial Clustering of																												p.S265S												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.C795T	5						.	G	,	2,4404	4.2+/-10.8	0,2,2201	60.0	60.0	60.0		726,795	0.7	1.0	5	dbSNP_134	60	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	SPRY4	NM_001127496.1,NM_030964.3	,	0,7,6496	AA,AG,GG		0.0581,0.0454,0.0538	,	242/300,265/323	141693948	7,12999	2203	4300	6503	141674132	SO:0001819	synonymous_variant	81848	exon3	Familial Cancer Database		AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.726C>T	5.37:g.141693948G>A			141674132	NM_030964	A4FVB2|A4FVB3|Q6QIX2|Q9C003	Silent	SNP	ENST00000434127.2	37	CCDS47296.1																																																																																				0.682	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1		
SLC6A3	6531	broad.mit.edu	37	5	1443096	1443096	+	Missense_Mutation	SNP	C	C	T	rs150576860		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:1443096C>T	ENST00000270349.9	-	2	344	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V73I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	73					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.V73I(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AAGCCAATGACGGACAGGAGA	0.612																																					p.V73I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G217A	5						.	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	111.0	99.0	103.0		217	4.8	0.3	5	dbSNP_134	103	0,8600		0,0,4300	no	missense	SLC6A3	NM_001044.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	73/621	1443096	1,13005	2203	4300	6503	1496096	SO:0001583	missense	6531	exon2				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.217G>A	5.37:g.1443096C>T	ENSP00000270349:p.Val73Ile		1496096	NM_001044	A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608607	0.66558	2.27E-4	0.0	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.74842	-0.88;-0.88	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.75324	0.3834	L	0.38531	1.155	0.58432	D	0.999998	D	0.54601	0.967	P	0.54270	0.747	T	0.76405	-0.2971	10	0.45353	T	0.12	.	15.2518	0.73552	0.0:1.0:0.0:0.0	.	73	Q01959	SC6A3_HUMAN	I	73	ENSP00000270349:V73I;ENSP00000399806:V73I	ENSP00000270349:V73I	V	-	1	0	SLC6A3	1496096	1.000000	0.71417	0.283000	0.24790	0.813000	0.45954	5.562000	0.67346	2.202000	0.70862	0.561000	0.74099	GTC		0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044	
RBM27	54439	broad.mit.edu	37	5	145609404	145609404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:145609404C>T	ENST00000265271.5	+	5	686	c.520C>T	c.(520-522)Cga>Tga	p.R174*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.R174*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	174	Arg-rich.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R174*(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			gagtaagagtcgAGGCCTGAG	0.507																																					p.R174X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|pancreas(1)	c.C520T	5						.						132.0	128.0	129.0					5																	145609404		1568	3582	5150	145589597	SO:0001587	stop_gained	54439	exon5			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.520C>T	5.37:g.145609404C>T	ENSP00000265271:p.Arg174*		145589597	NM_018989	Q8IYW9	Nonsense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	C	38	6.662337	0.97743	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.74	4.8	0.61643	.	0.086456	0.47093	D	0.000249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6106	15.8716	0.79122	0.1812:0.8188:0.0:0.0	.	.	.	.	X	174	.	ENSP00000265271:R174X	R	+	1	2	RBM27	145589597	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.902000	0.39848	2.695000	0.91970	0.655000	0.94253	CGA		0.507	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	
SYNPO	11346	broad.mit.edu	37	5	150029718	150029718	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:150029718C>T	ENST00000394243.1	+	3	2987	c.2613C>T	c.(2611-2613)ccC>ccT	p.P871P	SYNPO_ENST00000519664.1_Silent_p.P627P|SYNPO_ENST00000307662.4_Silent_p.P627P|SYNPO_ENST00000522122.1_Silent_p.P871P	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	871	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)	p.P627P(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACCTCCCCCGGCCAGGACA	0.706																																					p.P871P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2613T	5						.						53.0	59.0	57.0					5																	150029718		2203	4299	6502	150009911	SO:0001819	synonymous_variant	11346	exon3			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2613C>T	5.37:g.150029718C>T			150009911	NM_001166208	A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	ENST00000394243.1	37	CCDS54937.1																																																																																				0.706	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286	
MYOZ3	91977	broad.mit.edu	37	5	150050156	150050156	+	Missense_Mutation	SNP	C	C	T	rs201088365		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:150050156C>T	ENST00000297130.4	+	3	371	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	MYOZ3_ENST00000517768.1_Missense_Mutation_p.R58C|CTC-345K18.2_ENST00000511626.2_RNA|MYOZ3_ENST00000520112.1_5'Flank	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3									p.R58C(1)		large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGCAGCGCCGTGTGCAGAA	0.587																																					p.R58C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C172T	5						.						54.0	43.0	47.0					5																	150050156		2203	4300	6503	150030349	SO:0001583	missense	91977	exon3			AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"""calsarcin 3"", ""FATZ related protein 3"""	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.172C>T	5.37:g.150050156C>T	ENSP00000297130:p.Arg58Cys		150030349	NM_001122853		Missense_Mutation	SNP	ENST00000297130.4	37	CCDS4309.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840716	0.71488	.	.	ENSG00000164591	ENST00000517768;ENST00000297130	D;D	0.82619	-1.63;-1.63	4.89	2.93	0.34026	.	0.000000	0.51477	D	0.000094	D	0.90549	0.7038	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91144	0.4948	10	0.87932	D	0	-17.4299	11.1552	0.48484	0.4147:0.5852:0.0:0.0	.	58	Q8TDC0	MYOZ3_HUMAN	C	58	ENSP00000428815:R58C;ENSP00000297130:R58C	ENSP00000297130:R58C	R	+	1	0	MYOZ3	150030349	0.404000	0.25328	0.986000	0.45419	0.977000	0.68977	0.213000	0.17521	1.141000	0.42275	0.555000	0.69702	CGT		0.587	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853	
TNIP1	10318	broad.mit.edu	37	5	150407576	150407576	+	IGR	SNP	G	G	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:150407576G>T	ENST00000389378.2	-	0	3268				GPX3_ENST00000517973.1_3'UTR|GPX3_ENST00000388825.4_Missense_Mutation_p.G189V	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1						defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)	p.G189V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTGGTGGGGCCAGATGGT	0.597																																					p.G189V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G566T	5						.						43.0	47.0	46.0					5																	150407576		2062	4222	6284	150387769	SO:0001628	intergenic_variant	2878	exon5			AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025			5.37:g.150407576G>T			150387769	NM_002084	A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514721	0.85389	.	.	ENSG00000211445	ENST00000388825	T	0.04502	3.61	5.33	5.33	0.75918	Thioredoxin-like fold (2);	0.055100	0.64402	D	0.000001	T	0.29093	0.0723	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12837	-1.0532	10	0.87932	D	0	-6.2534	19.0343	0.92971	0.0:0.0:1.0:0.0	.	189	P22352	GPX3_HUMAN	V	189	ENSP00000373477:G189V	ENSP00000373477:G189V	G	+	2	0	GPX3	150387769	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.208000	0.77907	2.478000	0.83669	0.655000	0.94253	GGG		0.597	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058	
NMUR2	56923	broad.mit.edu	37	5	151784173	151784173	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:151784173C>T	ENST00000255262.3	-	1	667	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	168					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.G168S(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)			CAGACGATGCCGAGGATCCTG	0.637																																					p.G168S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G502A	5						.						56.0	63.0	60.0					5																	151784173		2203	4300	6503	151764366	SO:0001583	missense	56923	exon1			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.502G>A	5.37:g.151784173C>T	ENSP00000255262:p.Gly168Ser		151764366	NM_020167	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	5.835	0.338269	0.11069	.	.	ENSG00000132911	ENST00000255262	T	0.37584	1.19	5.44	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.685869	0.13990	N	0.348883	T	0.21267	0.0512	L	0.35644	1.08	0.09310	N	1	B	0.22346	0.068	B	0.10450	0.005	T	0.19257	-1.0311	10	0.21540	T	0.41	-1.8093	2.5006	0.04632	0.1314:0.514:0.1279:0.2267	.	168	Q9GZQ4	NMUR2_HUMAN	S	168	ENSP00000255262:G168S	ENSP00000255262:G168S	G	-	1	0	NMUR2	151764366	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	0.209000	0.17435	0.231000	0.21079	0.585000	0.79938	GGC		0.637	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
GRIA1	2890	broad.mit.edu	37	5	153182028	153182028	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:153182028G>A	ENST00000285900.5	+	15	2841	c.2498G>A	c.(2497-2499)cGt>cAt	p.R833H	GRIA1_ENST00000518783.1_Missense_Mutation_p.R843H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R753H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R833H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R764H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R843H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	833					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.R833H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TACAAATCCCGTAGTGAATCC	0.527																																					p.R833H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2498A	5						.						245.0	226.0	233.0					5																	153182028		2203	4300	6503	153162221	SO:0001583	missense	2890	exon15				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2498G>A	5.37:g.153182028G>A	ENSP00000285900:p.Arg833His		153162221	NM_001114183	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148440	0.94603	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	M	0.70275	2.135	0.80722	D	1	D;D;B;D;P	0.67145	0.994;0.994;0.143;0.996;0.51	P;P;B;P;B	0.57152	0.656;0.656;0.03;0.814;0.117	T	0.78125	-0.2326	10	0.66056	D	0.02	.	18.1053	0.89518	0.0:0.0:1.0:0.0	.	843;843;753;833;833	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	H	833;833;753;833;766;764;843;843	ENSP00000285900:R833H;ENSP00000427920:R753H;ENSP00000339343:R833H;ENSP00000427864:R766H;ENSP00000442108:R764H;ENSP00000428994:R843H;ENSP00000415569:R843H	ENSP00000285900:R833H	R	+	2	0	GRIA1	153162221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.581000	0.98210	2.516000	0.84829	0.655000	0.94253	CGT		0.527	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
GEMIN5	25929	broad.mit.edu	37	5	154311118	154311118	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:154311118G>A	ENST00000285873.7	-	5	756	c.681C>T	c.(679-681)aaC>aaT	p.N227N		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	227					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.N227N(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCATTCCCGTTGGTAATTT	0.383																																					p.N227N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C681T	5						.						136.0	121.0	126.0					5																	154311118		2203	4300	6503	154291311	SO:0001819	synonymous_variant	25929	exon5			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.681C>T	5.37:g.154311118G>A			154291311	NM_015465	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	CCDS4330.1																																																																																				0.383	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		
MYO10	4651	broad.mit.edu	37	5	16681496	16681496	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:16681496C>T	ENST00000513610.1	-	32	4760	c.4306G>A	c.(4306-4308)Gcg>Acg	p.A1436T	MYO10_ENST00000505695.1_Missense_Mutation_p.A775T|MYO10_ENST00000427430.2_Missense_Mutation_p.A793T|MYO10_ENST00000274203.9_Missense_Mutation_p.A793T|MYO10_ENST00000515803.1_Missense_Mutation_p.A775T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1436	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.A1436T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGTTTGAGCGCGTTCTTCTCT	0.502																																					p.A1436T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4306A	5						.						126.0	129.0	128.0					5																	16681496		1893	4101	5994	16734496	SO:0001583	missense	4651	exon32			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4306G>A	5.37:g.16681496C>T	ENSP00000421280:p.Ala1436Thr		16734496	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189357	0.57909	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16	5.45	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.94228	0.8147	M	0.64170	1.965	0.80722	D	1	P;P;P	0.51240	0.814;0.929;0.943	B;P;P	0.51999	0.266;0.508;0.687	D	0.94037	0.7306	9	0.51188	T	0.08	.	15.717	0.77674	0.1379:0.8621:0.0:0.0	.	315;1076;1436	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	T	1436;775;793;775;793	ENSP00000421280:A1436T;ENSP00000425051:A775T;ENSP00000274203:A793T;ENSP00000421170:A775T;ENSP00000391106:A793T	ENSP00000274203:A793T	A	-	1	0	MYO10	16734496	1.000000	0.71417	0.336000	0.25522	0.126000	0.20510	4.998000	0.63927	1.403000	0.46800	0.555000	0.69702	GCG		0.502	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
FAM71B	153745	broad.mit.edu	37	5	156589823	156589823	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:156589823A>G	ENST00000302938.4	-	2	1548	c.1453T>C	c.(1453-1455)Tac>Cac	p.Y485H		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	485						nucleus (GO:0005634)		p.Y485H(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACGTTGCTGTACCCTTTTTCT	0.527																																					p.Y485H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1453C	5						.						235.0	224.0	227.0					5																	156589823		2203	4300	6503	156522401	SO:0001583	missense	153745	exon2				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1453T>C	5.37:g.156589823A>G	ENSP00000305596:p.Tyr485His		156522401	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	2.162	-0.392034	0.04932	.	.	ENSG00000170613	ENST00000302938	T	0.18657	2.2	4.52	2.67	0.31697	.	1.878220	0.02837	N	0.127535	T	0.06690	0.0171	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34254	-0.9836	10	0.10636	T	0.68	1.3145	3.7576	0.08592	0.0932:0.1634:0.5745:0.1689	.	485	Q8TC56	FA71B_HUMAN	H	485	ENSP00000305596:Y485H	ENSP00000305596:Y485H	Y	-	1	0	FAM71B	156522401	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.256000	0.18351	0.202000	0.20498	-0.825000	0.03093	TAC		0.527	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
MYO10	4651	broad.mit.edu	37	5	16766264	16766264	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:16766264C>A	ENST00000513610.1	-	11	1558	c.1104G>T	c.(1102-1104)caG>caT	p.Q368H		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	368	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.Q368H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CATCTGTGAGCTGTGTTGGGT	0.517																																					p.Q368H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1104T	5						.						124.0	121.0	122.0					5																	16766264		1960	4165	6125	16819264	SO:0001583	missense	4651	exon11			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1104G>T	5.37:g.16766264C>A	ENSP00000421280:p.Gln368His		16819264	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042602	0.75732	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	D;D	0.87491	-2.26;-2.26	5.05	5.05	0.67936	Myosin head, motor domain (2);	.	.	.	.	D	0.92169	0.7517	M	0.74467	2.265	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	D	0.92606	0.6095	9	0.62326	D	0.03	.	12.8243	0.57710	0.0:0.9216:0.0:0.0784	.	368	Q9HD67	MYO10_HUMAN	H	368;379	ENSP00000421280:Q368H;ENSP00000421309:Q379H	ENSP00000421280:Q368H	Q	-	3	2	MYO10	16819264	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.633000	0.46519	2.344000	0.79699	0.591000	0.81541	CAG		0.517	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
SLIT3	6586	broad.mit.edu	37	5	168111081	168111081	+	Silent	SNP	G	G	A	rs369562472		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:168111081G>A	ENST00000519560.1	-	32	3995	c.3576C>T	c.(3574-3576)aaC>aaT	p.N1192N	SLIT3_ENST00000332966.8_Silent_p.N1199N|SLIT3_ENST00000404867.3_Silent_p.N1192N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1192	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.N1192N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAGGATGCCGTTGTCCTTGT	0.582																																					p.N1192N	Ovarian(29;311 847 10864 17279 24903)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3576T	5						.	A		0,4406		0,0,2203	107.0	100.0	102.0		3576	-6.3	1.0	5		102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLIT3	NM_003062.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1192/1524	168111081	1,13005	2203	4300	6503	168043659	SO:0001819	synonymous_variant	6586	exon32			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3576C>T	5.37:g.168111081G>A			168043659	NM_003062	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	CCDS4369.1																																																																																				0.582	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
DOCK2	1794	broad.mit.edu	37	5	169483737	169483737	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:169483737C>T	ENST00000256935.8	+	43	4425	c.4345C>T	c.(4345-4347)Cgc>Tgc	p.R1449C	DOCK2_ENST00000540750.1_Missense_Mutation_p.R510C|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R941C	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1449	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R1449C(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)			CCGGCCCGTGCGCAGGGGGAC	0.567																																					p.R1449C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4345T	5						.						110.0	91.0	97.0					5																	169483737		2203	4300	6503	169416315	SO:0001583	missense	1794	exon43			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.4345C>T	5.37:g.169483737C>T	ENSP00000256935:p.Arg1449Cys		169416315	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991926	0.74703	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.17528	2.27;2.27;2.27	5.27	4.34	0.51931	.	0.133600	0.50627	D	0.000115	T	0.45935	0.1367	M	0.90650	3.135	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;P	0.66196	0.942;0.853	T	0.54227	-0.8325	10	0.56958	D	0.05	.	13.2004	0.59765	0.2398:0.7602:0.0:0.0	.	941;1449	E7ERW7;Q92608	.;DOCK2_HUMAN	C	1449;941;510	ENSP00000256935:R1449C;ENSP00000429283:R941C;ENSP00000438827:R510C	ENSP00000256935:R1449C	R	+	1	0	DOCK2	169416315	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.860000	0.48372	2.449000	0.82847	0.650000	0.86243	CGC		0.567	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
GABRP	2568	broad.mit.edu	37	5	170222236	170222236	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:170222236C>T	ENST00000518525.1	+	6	729	c.265C>T	c.(265-267)Cga>Tga	p.R89*	GABRP_ENST00000519598.1_Nonsense_Mutation_p.R89*|GABRP_ENST00000265294.4_Nonsense_Mutation_p.R89*|GABRP_ENST00000519385.1_Nonsense_Mutation_p.R89*			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	89					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.R89*(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)	CATATACCTCCGACAGCGCTG	0.562																																					p.R89X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C265T	5						.						142.0	146.0	145.0					5																	170222236		2203	4300	6503	170154814	SO:0001587	stop_gained	2568	exon5			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.265C>T	5.37:g.170222236C>T	ENSP00000430100:p.Arg89*		170154814	NM_014211	A8KA36|D3DQL2|Q32MJ1	Nonsense_Mutation	SNP	ENST00000518525.1	37	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891228	0.91889	.	.	ENSG00000094755	ENST00000521481;ENST00000521009;ENST00000522868;ENST00000518525;ENST00000539175;ENST00000265294;ENST00000519385;ENST00000519598	.	.	.	5.59	3.4	0.38934	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5153	0.67816	0.3671:0.6329:0.0:0.0	.	.	.	.	X	89;89;89;89;10;89;89;89	.	ENSP00000265294:R89X	R	+	1	2	GABRP	170154814	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.575000	0.46025	1.352000	0.45808	0.643000	0.83706	CGA		0.562	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211	
CDHR2	54825	broad.mit.edu	37	5	176016163	176016163	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:176016163C>T	ENST00000510636.1	+	22	3262	c.2988C>T	c.(2986-2988)gaC>gaT	p.D996D	CDHR2_ENST00000506348.1_Silent_p.D996D|CDHR2_ENST00000261944.5_Silent_p.D996D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	996	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D996D(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCGAGGCCGACGTGTTCGCTG	0.617																																					p.D996D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2988T	5						.						148.0	149.0	149.0					5																	176016163		2203	4300	6503	175948769	SO:0001819	synonymous_variant	54825	exon22			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2988C>T	5.37:g.176016163C>T			175948769	NM_001171976	A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	CCDS34297.1																																																																																				0.617	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	
HK3	3101	broad.mit.edu	37	5	176315425	176315425	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:176315425G>A	ENST00000292432.5	-	10	1303	c.1212C>T	c.(1210-1212)gcC>gcT	p.A404A		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	404	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.A404A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAACAGCGGCCAGGGCGG	0.662																																					p.A404A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1212T	5						.						23.0	22.0	22.0					5																	176315425		2174	4258	6432	176248031	SO:0001819	synonymous_variant	3101	exon10				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1212C>T	5.37:g.176315425G>A			176248031	NM_002115	Q8N1E7	Silent	SNP	ENST00000292432.5	37	CCDS4407.1																																																																																				0.662	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		
LMAN2	10960	broad.mit.edu	37	5	176761352	176761352	+	Silent	SNP	C	C	T	rs367812402		TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:176761352C>T	ENST00000303127.7	-	7	1047	c.843G>A	c.(841-843)acG>acA	p.T281T	LMAN2_ENST00000515209.1_Silent_p.T281T	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	281					positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.T281T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CCTCGTCGGGCGTGTGCTCCA	0.592																																					p.T281T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G843A	5						.	C		0,4406		0,0,2203	110.0	84.0	93.0		843	-11.1	0.0	5		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LMAN2	NM_006816.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		281/357	176761352	1,13005	2203	4300	6503	176693958	SO:0001819	synonymous_variant	10960	exon7			U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"""chromosome 5 open reading frame 8"""	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.843G>A	5.37:g.176761352C>T			176693958	NM_006816	Q53HH1	Silent	SNP	ENST00000303127.7	37	CCDS4417.1																																																																																				0.592	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	NM_006816	
GRM6	2916	broad.mit.edu	37	5	178419043	178419043	+	Silent	SNP	G	G	A	rs200220261		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:178419043G>A	ENST00000517717.1	-	3	584	c.546C>T	c.(544-546)agC>agT	p.S182S	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.S182S			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	182					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.S182S(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTGTGGAGTCGCTGAGCTCCG	0.607																																					p.S182S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C546T	5						.						44.0	44.0	44.0					5																	178419043		2203	4300	6503	178351649	SO:0001819	synonymous_variant	2916	exon2			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.546C>T	5.37:g.178419043G>A			178351649	NM_000843		Silent	SNP	ENST00000517717.1	37	CCDS4442.1																																																																																				0.607	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
ADAMTS2	9509	broad.mit.edu	37	5	178541106	178541106	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:178541106C>T	ENST00000251582.7	-	22	3499	c.3398G>A	c.(3397-3399)cGg>cAg	p.R1133Q		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1133					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1133Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGGTGATGGCCGCACCTCCAT	0.582																																					p.R1133Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3398A	5						.						177.0	156.0	163.0					5																	178541106		2203	4300	6503	178473712	SO:0001583	missense	9509	exon22			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3398G>A	5.37:g.178541106C>T	ENSP00000251582:p.Arg1133Gln		178473712	NM_014244		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.252696	0.00268	.	.	ENSG00000087116	ENST00000251582	T	0.58060	0.36	5.05	-0.641	0.11490	.	0.828579	0.10123	N	0.713134	T	0.18383	0.0441	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22103	-1.0226	10	0.11485	T	0.65	.	2.372	0.04333	0.1227:0.2188:0.4194:0.239	.	1133	O95450	ATS2_HUMAN	Q	1133	ENSP00000251582:R1133Q	ENSP00000251582:R1133Q	R	-	2	0	ADAMTS2	178473712	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.844000	0.04345	-0.046000	0.13446	-1.762000	0.00668	CGG		0.582	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
MGAT4B	11282	broad.mit.edu	37	5	179229097	179229097	+	Intron	SNP	T	T	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:179229097T>G	ENST00000292591.7	-	2	448				MGAT4B_ENST00000337755.5_Silent_p.A5A|MGAT4B_ENST00000521305.1_Intron	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B						cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|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.A5A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTTGTGCCTGCCACACGTG	0.557											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A5A	GBM(13;414 434 4098 22176 23230)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A15C	5						.						71.0	79.0	76.0					5																	179229097		2193	4289	6482	179161703	SO:0001627	intron_variant	11282	exon1			AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.98-128A>C	5.37:g.179229097T>G		1952	179161703	NM_054013	A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Silent	SNP	ENST00000292591.7	37	CCDS4448.1																																																																																				0.557	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275	
PLEKHG4B	153478	broad.mit.edu	37	5	156250	156250	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:156250T>G	ENST00000283426.6	+	8	1255	c.1205T>G	c.(1204-1206)cTt>cGt	p.L402R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	402							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L402R(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)		GACCCACTGCTTGTGTCTCTC	0.587																																					p.L402R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1205G	5						.						100.0	94.0	96.0					5																	156250		2203	4300	6503	209250	SO:0001583	missense	153478	exon8			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.1205T>G	5.37:g.156250T>G	ENSP00000283426:p.Leu402Arg		209250	NM_052909		Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.679712	0.29783	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.45276	0.9;2.49	3.65	3.65	0.41850	.	.	.	.	.	T	0.62183	0.2407	M	0.78916	2.43	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50398	-0.8833	9	0.59425	D	0.04	.	8.7019	0.34332	0.0:0.0:0.0:1.0	.	402	Q96PX9	PKH4B_HUMAN	R	402;316	ENSP00000283426:L402R;ENSP00000422493:L316R	ENSP00000283426:L402R	L	+	2	0	PLEKHG4B	209250	0.995000	0.38212	0.008000	0.14137	0.115000	0.19883	4.170000	0.58229	1.291000	0.44653	0.383000	0.25322	CTT		0.587	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
SEMA5A	9037	broad.mit.edu	37	5	9054218	9054218	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:9054218G>A	ENST00000382496.5	-	19	3335	c.2670C>T	c.(2668-2670)tgC>tgT	p.C890C	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	890	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.C890C(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTGCGTGTTGCAGAGTGCCT	0.552																																					p.C890C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2670T	5						.						78.0	74.0	75.0					5																	9054218		2203	4300	6503	9107218	SO:0001819	synonymous_variant	9037	exon19			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2670C>T	5.37:g.9054218G>A			9107218	NM_003966	D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	CCDS3875.1																																																																																				0.552	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		
CDH18	1016	broad.mit.edu	37	5	19473789	19473789	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:19473789T>C	ENST00000507958.1	-	15	2909	c.1919A>G	c.(1918-1920)aAa>aGa	p.K640R	CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.K640R|CDH18_ENST00000382275.1_Missense_Mutation_p.K640R			Q13634	CAD18_HUMAN	cadherin 18, type 2	640					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.K640R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GGGCTCTTTTTTGCTGCGCCT	0.428																																					p.K640R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1919G	5						.						145.0	153.0	150.0					5																	19473789		2203	4300	6503	19509546	SO:0001583	missense	1016	exon13			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1919A>G	5.37:g.19473789T>C	ENSP00000425093:p.Lys640Arg		19509546	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.126184	0.77549	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.77489	-1.1;-1.1;-1.1	6.16	6.16	0.99307	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	N	0.11698	0.16	0.54753	D	0.99998	B	0.14805	0.011	B	0.22601	0.04	T	0.59053	-0.7526	9	.	.	.	.	15.6301	0.76899	0.0:0.0:0.0:1.0	.	640	Q13634	CAD18_HUMAN	R	640	ENSP00000371710:K640R;ENSP00000425093:K640R;ENSP00000274170:K640R	.	K	-	2	0	CDH18	19509546	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.285000	0.72658	2.367000	0.80283	0.528000	0.53228	AAA		0.428	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
PRDM9	56979	broad.mit.edu	37	5	23509200	23509200	+	Missense_Mutation	SNP	C	C	T	rs184600328	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:23509200C>T	ENST00000296682.3	+	2	240	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	20					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.R20W(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						GAGAACAGAGCGGAAGCCCAT	0.572										HNSCC(3;0.000094)			C|||	4	0.000798722	0.0	0.0	5008	,	,		18158	0.0		0.004	False		,,,				2504	0.0				p.R20W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C58T	5						.	C	TRP/ARG	0,3952		0,0,1976	81.0	91.0	87.0		58	-1.0	0.1	5		87	15,8287		0,15,4136	no	missense	PRDM9	NM_020227.2	101	0,15,6112	TT,TC,CC		0.1807,0.0,0.1224	benign	20/895	23509200	15,12239	1976	4151	6127	23544957	SO:0001583	missense	56979	exon2			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.58C>T	5.37:g.23509200C>T	ENSP00000296682:p.Arg20Trp		23544957	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	6.582	0.475653	0.12521	0.0	0.001807	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.10382	2.88;2.98	1.77	-0.976	0.10286	Krueppel-associated box (1);	.	.	.	.	T	0.02610	0.0079	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44590	-0.9318	9	0.02654	T	1	.	4.0249	0.09683	0.0:0.2217:0.0:0.7783	.	20	Q9NQV7	PRDM9_HUMAN	W	20	ENSP00000425471:R20W;ENSP00000296682:R20W	ENSP00000296682:R20W	R	+	1	2	PRDM9	23544957	0.000000	0.05858	0.076000	0.20297	0.003000	0.03518	-2.009000	0.01455	0.045000	0.15804	-0.901000	0.02856	CGG		0.572	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
DROSHA	29102	broad.mit.edu	37	5	31464406	31464406	+	Silent	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:31464406T>C	ENST00000511367.2	-	19	2755	c.2511A>G	c.(2509-2511)gaA>gaG	p.E837E	DROSHA_ENST00000513349.1_Silent_p.E800E|DROSHA_ENST00000442743.1_Silent_p.E800E|DROSHA_ENST00000344624.3_Silent_p.E837E	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	837	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.E837E(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CCACCGTTACTTCTCGTCTCA	0.433																																					p.E837E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2511G	5						.						111.0	105.0	106.0					5																	31464406		1873	4118	5991	31500163	SO:0001819	synonymous_variant	29102	exon19			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.2511A>G	5.37:g.31464406T>C			31500163	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Silent	SNP	ENST00000511367.2	37	CCDS47195.1																																																																																				0.433	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
PDZD2	23037	broad.mit.edu	37	5	32061110	32061110	+	Missense_Mutation	SNP	G	G	A	rs556048029		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:32061110G>A	ENST00000438447.1	+	14	2709	c.2321G>A	c.(2320-2322)cGc>cAc	p.R774H	PDZD2_ENST00000282493.3_Missense_Mutation_p.R774H			O15018	PDZD2_HUMAN	PDZ domain containing 2	774	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.R774H(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						CTCCCTAGCCGCGGGGATCAA	0.488																																					p.R774H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2321A	5						.						88.0	75.0	79.0					5																	32061110		2203	4300	6503	32096867	SO:0001583	missense	23037	exon13			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.2321G>A	5.37:g.32061110G>A	ENSP00000402033:p.Arg774His		32096867	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075225	0.76415	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.27256	1.68;1.68	5.76	5.76	0.90799	PDZ/DHR/GLGF (4);	0.224065	0.26038	N	0.026701	T	0.56366	0.1980	M	0.83012	2.62	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58803	-0.7572	10	0.59425	D	0.04	.	17.4556	0.87606	0.0:0.0:1.0:0.0	.	600;774	B4E3P2;O15018	.;PDZD2_HUMAN	H	774;593;774	ENSP00000402033:R774H;ENSP00000282493:R774H	ENSP00000282493:R774H	R	+	2	0	PDZD2	32096867	1.000000	0.71417	0.953000	0.39169	0.440000	0.31957	6.194000	0.72082	2.722000	0.93159	0.650000	0.86243	CGC		0.488	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
PDZD2	23037	broad.mit.edu	37	5	32074112	32074112	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:32074112C>T	ENST00000438447.1	+	18	3288	c.2900C>T	c.(2899-2901)gCc>gTc	p.A967V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A967V			O15018	PDZD2_HUMAN	PDZ domain containing 2	967					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.A967V(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						TGCTACGATGCCAACGATGCC	0.602																																					p.A967V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2900T	5						.						66.0	70.0	68.0					5																	32074112		2203	4300	6503	32109869	SO:0001583	missense	23037	exon17			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.2900C>T	5.37:g.32074112C>T	ENSP00000402033:p.Ala967Val		32109869	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467185	0.43839	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07444	3.19;3.19	5.16	3.28	0.37604	.	0.909484	0.09133	N	0.844048	T	0.06462	0.0166	N	0.19112	0.55	0.09310	N	1	B;B	0.34103	0.08;0.437	B;B	0.32864	0.027;0.154	T	0.40942	-0.9536	10	0.48119	T	0.1	.	8.4159	0.32670	0.1612:0.5034:0.3354:0.0	.	793;967	B4E3P2;O15018	.;PDZD2_HUMAN	V	967;769;967	ENSP00000402033:A967V;ENSP00000282493:A967V	ENSP00000282493:A967V	A	+	2	0	PDZD2	32109869	0.001000	0.12720	0.000000	0.03702	0.987000	0.75469	0.083000	0.14871	0.506000	0.28125	0.551000	0.68910	GCC		0.602	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
BRIX1	55299	broad.mit.edu	37	5	34923288	34923288	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:34923288C>T	ENST00000336767.5	+	8	975	c.612C>T	c.(610-612)caC>caT	p.H204H	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	204	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.H204H(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						TTGTGGACCACGTGTTTACTT	0.313																																					p.H204H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C612T	5						.						127.0	127.0	127.0					5																	34923288		2203	4300	6503	34959045	SO:0001819	synonymous_variant	55299	exon8				CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.612C>T	5.37:g.34923288C>T			34959045	NM_018321	A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Silent	SNP	ENST00000336767.5	37	CCDS34143.1																																																																																				0.313	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321	
MROH2B	133558	broad.mit.edu	37	5	41000448	41000448	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:41000448G>A	ENST00000399564.4	-	39	4806	c.4356C>T	c.(4354-4356)tgC>tgT	p.C1452C	MROH2B_ENST00000506092.2_Silent_p.C1007C	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1452								p.C1452C(1)									AGACATCACGGCAAGCCTGGA	0.478																																					p.C1452C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4356T	5						.						48.0	47.0	48.0					5																	41000448		1913	4119	6032	41036205	SO:0001819	synonymous_variant	133558	exon39				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4356C>T	5.37:g.41000448G>A			41036205	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1																																																																																				0.478	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
HCN1	348980	broad.mit.edu	37	5	45262468	45262468	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:45262468G>A	ENST00000303230.4	-	8	2285	c.2228C>T	c.(2227-2229)cCg>cTg	p.P743L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	743	Gln-rich.				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.P743L(1)|p.P743Q(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						agtctgcggcggctgggactg	0.637																																					p.P743L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C2228T	5						.						30.0	32.0	32.0					5																	45262468		2203	4299	6502	45298225	SO:0001583	missense	348980	exon8			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2228C>T	5.37:g.45262468G>A	ENSP00000307342:p.Pro743Leu		45298225	NM_021072		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	9.169	1.020576	0.19433	.	.	ENSG00000164588	ENST00000303230	T	0.74842	-0.88	4.49	2.52	0.30459	.	0.449943	0.18476	N	0.140075	T	0.55705	0.1937	L	0.29908	0.895	0.25562	N	0.986987	B	0.02656	0.0	B	0.01281	0.0	T	0.37220	-0.9715	10	0.33940	T	0.23	.	3.3166	0.07035	0.2156:0.0:0.506:0.2784	.	743	O60741	HCN1_HUMAN	L	743	ENSP00000307342:P743L	ENSP00000307342:P743L	P	-	2	0	HCN1	45298225	0.208000	0.23494	0.560000	0.28344	0.776000	0.43924	-0.200000	0.09478	1.215000	0.43411	0.655000	0.94253	CCG		0.637	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
MAST4	375449	broad.mit.edu	37	5	66461412	66461412	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:66461412G>A	ENST00000403625.2	+	29	6700	c.6405G>A	c.(6403-6405)ccG>ccA	p.P2135P	MAST4_ENST00000404260.3_Silent_p.P2138P|MAST4_ENST00000405643.1_Silent_p.P1956P|MAST4_ENST00000261569.7_Silent_p.P1941P|MAST4_ENST00000403666.1_Silent_p.P1946P	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2138	Pro-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.P2138P(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCATCCCTCCGCCCCCTCTGA	0.602																																					p.P1946P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5838A	5						.						29.0	39.0	35.0					5																	66461412		2075	4189	6264	66497168	SO:0001819	synonymous_variant	375449	exon28			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6405G>A	5.37:g.66461412G>A			66497168	NM_015183	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	3.909	-0.020537	0.07634	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.2	0.399	0.16325	.	.	.	.	.	T	0.35335	0.0928	.	.	.	0.23946	N	0.996388	.	.	.	.	.	.	T	0.29212	-1.0019	4	.	.	.	-8.7172	10.1001	0.42499	0.5396:0.0:0.4604:0.0	.	.	.	.	T	1192	.	.	A	+	1	0	MAST4	66497168	0.288000	0.24324	0.142000	0.22268	0.001000	0.01503	1.981000	0.40628	-0.116000	0.11893	-0.794000	0.03295	GCC		0.602	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
TAF9	6880	broad.mit.edu	37	5	68661290	68661290	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:68661290delA	ENST00000328663.4	-	3	741	c.275delT	c.(274-276)ttafs	p.L93fs	TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_Frame_Shift_Del_p.L93fs|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Frame_Shift_Del_p.L93fs|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380818.3_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	93					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|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)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.L92fs*2(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		AATATCTAATAAAAAATCTCT	0.448																																					p.L92fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.275delT	5						.						83.0	85.0	85.0					5																	68661290		2203	4300	6503	68697046	SO:0001589	frameshift_variant	6880	exon3			U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.275delT	5.37:g.68661290delA	ENSP00000370193:p.Leu93fs		68697046	NM_003187	D3DWA3|Q5U0D1|Q9BTS1	Frame_Shift_Del	DEL	ENST00000328663.4	37	CCDS4002.1																																																																																				0.448	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187	
MAP1B	4131	broad.mit.edu	37	5	71490040	71490040	+	Silent	SNP	C	C	T			TCGA-AG-A02N-01	TCGA-AG-A02N-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:71490040C>T	ENST00000296755.7	+	5	1156	c.858C>T	c.(856-858)ggC>ggT	p.G286G		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	286					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.G286G(3)		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)		TCATCAATGGCGGATCAGAGA	0.488																																					p.G286G	Melanoma(17;367 822 11631 31730 47712)											.	.	3	Substitution - coding silent(3)	large_intestine(2)|ovary(1)	c.C858T	5						.						81.0	86.0	84.0					5																	71490040		2203	4300	6503	71525796	SO:0001819	synonymous_variant	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.858C>T	5.37:g.71490040C>T			71525796	NM_005909	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																				0.488	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71492953	71492953	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:71492953G>A	ENST00000296755.7	+	5	4069	c.3771G>A	c.(3769-3771)ccG>ccA	p.P1257P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1257					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.P1257P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CGAAGAGCCCGTCCCTGAGTC	0.498																																					p.P1257P	Melanoma(17;367 822 11631 31730 47712)											.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G3771A	5						.						87.0	85.0	86.0					5																	71492953		2203	4300	6503	71528709	SO:0001819	synonymous_variant	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3771G>A	5.37:g.71492953G>A			71528709	NM_005909	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																				0.498	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
BTF3	689	broad.mit.edu	37	5	72798924	72798924	+	Missense_Mutation	SNP	G	G	A	rs186931485	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:72798924G>A	ENST00000335895.8	+	4	518	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000380591.3_Missense_Mutation_p.E167K	NM_001207.4	NP_001198.2	O00478	BT3A3_HUMAN	basic transcription factor 3	325	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.E167K(1)		endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		GAGACTGGCCGAAGCTCTGCC	0.453													G|||	2	0.000399361	0.0	0.0	5008	,	,		17438	0.001		0.001	False		,,,				2504	0.0				p.E123K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G367A	5						.						61.0	60.0	61.0					5																	72798924		2203	4300	6503	72834680	SO:0001583	missense	689	exon4			M90352	CCDS4019.1, CCDS34185.1	5q13.3	2010-06-17			ENSG00000145741	ENSG00000145741			1125	protein-coding gene	gene with protein product		602542	"""nascent-polypeptide-associated complex beta polypeptide"""	NACB		2320128, 1386332, 15716105	Standard	NM_001207		Approved	BTF3a, BTF3b	uc003kcr.1	P20290	OTTHUMG00000102031	ENST00000335895.8:c.367G>A	5.37:g.72798924G>A	ENSP00000338516:p.Glu123Lys		72834680	NM_001207	B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000335895.8	37	CCDS4019.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.7	4.190218	0.78789	.	.	ENSG00000145741	ENST00000335895;ENST00000380591;ENST00000507081;ENST00000509708	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	U	0.000000	T	0.64416	0.2596	M	0.79693	2.465	0.80722	D	1	B	0.31752	0.338	B	0.19946	0.027	T	0.65825	-0.6074	9	0.38643	T	0.18	-19.6762	19.2707	0.94008	0.0:0.0:1.0:0.0	.	167	P20290	BTF3_HUMAN	K	123;167;85;65	.	ENSP00000338516:E123K	E	+	1	0	BTF3	72834680	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.289000	0.96061	2.620000	0.88729	0.650000	0.86243	GAA		0.453	BTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219815.2	NM_001207	
THBS4	7060	broad.mit.edu	37	5	79354543	79354543	+	Missense_Mutation	SNP	G	G	A	rs553602331		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:79354543G>A	ENST00000350881.2	+	5	852	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.R130Q	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	221					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.R221Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GACTTTAACCGGCAGTTCTTG	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		17229	0.001		0.0	False		,,,				2504	0.0				p.R221Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G662A	5						.						66.0	67.0	67.0					5																	79354543		2203	4300	6503	79390299	SO:0001583	missense	7060	exon5				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.662G>A	5.37:g.79354543G>A	ENSP00000339730:p.Arg221Gln		79390299	NM_003248	B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893489	0.72639	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	T;T	0.30182	1.54;1.54	5.75	5.75	0.90469	Thrombospondin/cartilage oligomeric matrix protein, coiled-coil domain (1);	0.108147	0.64402	D	0.000009	T	0.27134	0.0665	L	0.44542	1.39	0.43885	D	0.996509	P	0.46142	0.873	B	0.37015	0.239	T	0.02958	-1.1089	10	0.21540	T	0.41	-22.2693	18.936	0.92586	0.0:0.0:1.0:0.0	.	221	P35443	TSP4_HUMAN	Q	221;130	ENSP00000339730:R221Q;ENSP00000422298:R130Q	ENSP00000339730:R221Q	R	+	2	0	THBS4	79390299	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	5.437000	0.66544	2.712000	0.92718	0.591000	0.81541	CGG		0.443	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1		
ANKRD34B	340120	broad.mit.edu	37	5	79855107	79855107	+	Silent	SNP	G	G	A	rs369753277		TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:79855107G>A	ENST00000338682.3	-	5	1404	c.732C>T	c.(730-732)caC>caT	p.H244H		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	244						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H244H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AGGGTGGAGCGTGGGGGAGCT	0.522																																					p.H244H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C732T	5						.	G		1,4405		0,1,2202	40.0	46.0	44.0		732	0.4	0.2	5		44	0,8598		0,0,4299	no	coding-synonymous	ANKRD34B	NM_001004441.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		244/515	79855107	1,13003	2203	4299	6502	79890863	SO:0001819	synonymous_variant	340120	exon5				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.732C>T	5.37:g.79855107G>A			79890863	NM_001004441	B2RPH1|Q68D79	Silent	SNP	ENST00000338682.3	37	CCDS34194.1																																																																																				0.522	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441	
POU5F2	134187	broad.mit.edu	37	5	93076585	93076585	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A02N-01	TCGA-AG-A02N-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:93076585A>G	ENST00000510627.4	-	1	758	c.685T>C	c.(685-687)Ttc>Ctc	p.F229L	POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	229				F -> L (in Ref. 3; CAE46012). {ECO:0000305}.	transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CACCGCTGGAAGAATTTCTCC	0.542																																					p.F229L												.	.	0			c.T685C	5						.						74.0	72.0	72.0					5																	93076585		1973	4182	6155	93102341	SO:0001583	missense	134187	exon1				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.685T>C	5.37:g.93076585A>G	ENSP00000464890:p.Phe229Leu		93102341	NM_153216	Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	37	CCDS59489.1																																																																																				0.542	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216	
SPATA9	83890	broad.mit.edu	37	5	94999697	94999697	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:94999697G>A	ENST00000274432.8	-	4	575	c.434C>T	c.(433-435)aCt>aTt	p.T145I	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	145					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T145I(1)		large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		TATTATGCTAGTTAAAGCAGT	0.274																																					p.T145I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C434T	5						.						32.0	33.0	32.0					5																	94999697		2202	4285	6487	95025453	SO:0001583	missense	83890	exon4			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.434C>T	5.37:g.94999697G>A	ENSP00000274432:p.Thr145Ile		95025453	NM_031952	A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346350	0.41599	.	.	ENSG00000145757	ENST00000274432	T	0.32272	1.46	5.57	4.7	0.59300	.	0.343904	0.25341	N	0.031366	T	0.22003	0.0530	N	0.24115	0.695	0.80722	D	1	B	0.12630	0.006	B	0.13407	0.009	T	0.03374	-1.1043	10	0.52906	T	0.07	-11.3968	11.6104	0.51055	0.0836:0.0:0.9164:0.0	.	145	Q9BWV2	SPAT9_HUMAN	I	145	ENSP00000274432:T145I	ENSP00000274432:T145I	T	-	2	0	SPATA9	95025453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.980000	0.49321	1.377000	0.46286	0.655000	0.94253	ACT		0.274	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952	
PCSK1	5122	broad.mit.edu	37	5	95728864	95728864	+	Silent	SNP	G	G	A	rs149384979	byFrequency	TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:95728864G>A	ENST00000311106.3	-	14	2340	c.2103C>T	c.(2101-2103)taC>taT	p.Y701Y	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.Y654Y	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	701					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.Y701Y(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCAGGGCTTCGTAGAAGTTTT	0.408																																					p.Y654Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1962T	5						.	G	,,	0,4406		0,0,2203	116.0	122.0	120.0		2103,1962,1173	-8.7	0.2	5	dbSNP_134	120	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	PCSK1	NM_000439.4,NM_001177875.1,NM_001177876.1	,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	701/754,654/707,391/444	95728864	3,13003	2203	4300	6503	95754620	SO:0001819	synonymous_variant	5122	exon14				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2103C>T	5.37:g.95728864G>A			95754620	NM_001177875	B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	CCDS4081.1																																																																																				0.408	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439	
C5orf45	51149	broad.mit.edu	37	5	179264844	179264844	+	Silent	SNP	G	G	A			TCGA-AG-A02N-01	TCGA-AG-A02N-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr5:179264844G>A	ENST00000292586.6	-	7	669	c.579C>T	c.(577-579)agC>agT	p.S193S	SQSTM1_ENST00000389805.4_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000523084.1_Silent_p.S59S|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000376931.2_Silent_p.S138S|C5orf45_ENST00000520698.1_Silent_p.S138S|C5orf45_ENST00000518235.1_Silent_p.S193S|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000403396.2_Silent_p.S235S	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	193								p.S193S(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GGAGGCAGGGGCTGCTGCCTT	0.592																																					p.S138S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T	5						.						34.0	38.0	37.0					5																	179264844		2203	4300	6503	179197450	SO:0001819	synonymous_variant	51149	exon5				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.579C>T	5.37:g.179264844G>A			179197450	NM_001017987	B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Silent	SNP	ENST00000292586.6	37	CCDS34319.1																																																																																				0.592	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175	
FAR1	84188	broad.mit.edu	37	11	13733357	13733357	+	Splice_Site	SNP	T	T	C			TCGA-AG-A02N-01	TCGA-AG-A02N-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chr11:13733357T>C	ENST00000354817.3	+	6	912		c.e6+2		FAR1_ENST00000527202.1_Splice_Site	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1						cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.?(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TTTATTGCGGTAAGTAAACCT	0.279																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						62.0	68.0	66.0					11																	13733357		2200	4287	6487	13689933	SO:0001630	splice_region_variant	84188	.			AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.768+2T>C	11.37:g.13733357T>C			13689933	.	D3DQW8|Q5CZA3	Splice_Site	SNP	ENST00000354817.3	37	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.053376	0.75960	.	.	ENSG00000197601	ENST00000354817;ENST00000532701;ENST00000355107	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2629	0.73637	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAR1	13689933	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.967000	0.87967	2.080000	0.62538	0.482000	0.46254	.		0.279	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228	Intron
TAZ	6901	broad.mit.edu	37	X	153648474	153648474	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A02N-01	TCGA-AG-A02N-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A02N-01	TCGA-AG-A02N-01	g.chrX:153648474delG	ENST00000369776.4	+	5	565	c.480delG	c.(478-480)gtgfs	p.V160fs	TAZ_ENST00000369790.4_Intron|TAZ_ENST00000351413.4_Intron|TAZ_ENST00000350743.4_Intron|TAZ_ENST00000299328.5_Intron|TAZ_ENST00000498029.1_Intron|TAZ_ENST00000475699.1_Intron			Q9GZV5	WWTR1_HUMAN	tafazzin	67					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CATCTGGGGTGGGGGGCCTGG	0.627																																					.												.	.	0			.	X						.						95.0	91.0	92.0					X																	153648474		2203	4300	6503	153301668	SO:0001589	frameshift_variant	6901	.			X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000369776.4:c.480delG	X.37:g.153648474delG	ENSP00000358791:p.Val160fs		153301668	.	D3DNH7|Q8N3P2|Q9Y3W6	Frame_Shift_Del	DEL	ENST00000369776.4	37																																																																																					0.627	TAZ-006	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000080943.2		
